Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy.

Autor: Llansó L; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Segarra-Casas A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Domínguez-González C; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Malfatti E; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Kapetanovic S; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Rodríguez-Santiago B; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., de la Calle O; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Blanco R; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Dobrescu A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Nascimento-Osorio A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Paipa A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Hernandez-Lain A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Jou C; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Mariscal A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., González-Mera L; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Arteche A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Lleixà C; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Caballero-Ávila M; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Carbayo Á; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Vesperinas A; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Querol L; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Gallardo E; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain., Olivé M; From the Department of Neurology (L.L., C.L., M.C.-Á., Á.C., A.V., L.Q., E.G., M.O.), Neuromuscular Diseases Unit; Department of Genetics (A.S.-C., B.R.-S.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Department of Neurology (C.D.-G.), Neuromuscular Diseases Unit, Hospital Universitario 12 de Octubre. Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Université Paris-Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hôpital Mondor, FHU SENEC, Service d'Histologie, Créteil, France; Department of Neurology (S.K.), Neuromuscular Diseases Unit, Osakidetza Basque Health Service, Basurto University Hospital, Universidad del País Vasco, Bilbao; Institut de Recerca Sant Pau (IR Sant Pau) (B.R.-S., R.B., C.L., L.Q., E.G., M.O.), Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid; Genomic Instability Syndromes and DNA Repair Group and Join Research Unit on Genomic Medicine UAB (B.R.-S.), Institut de Recerca Sant Pau (IR Sant Pau), Hospital de la Santa Creu i Sant Pau; Immunology Department (O.C., A.M.), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau (IR Sant Pau), Barcelona, Spain; Department of Genetics (A.D.), Craiova University Hospital, Romania; Neuropaediatrics Department (A.N.O.), Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Fundación Sant Joan de Déu, CIBERER - ISC III; Neurology Department (A.P., L.G.-M.), Neuromuscular Unit, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Pathology Department (A.H.-L.), Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid; Pathology Department (C.J.), Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, and MetabERN, Barcelona; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid; Department of Neurology (L.G.-M.), Hospital de Viladecans, Barcelona; and Department of Genetics (A.A.), Hospital Universitario 12 de Octubre, Research Institute imas12, Madrid, Spain.

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