Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

Autor: Kramer, J.J., Boon, H.T.M., Leijten, Q.H., Laak, H.J. ter, Eshuis, L., Kusters, B., Doorn, J.L.M., Kamsteeg, E.J., Eymard, B., Doorduin, J., Voermans, N.C.

Publikováno v: Journal of Neuromuscular Diseases, 10, 2, pp. 271-277
Journal of Neuromuscular Diseases, 10, 271-277

Contains fulltext : 291135.pdf (Publisher’s version ) (Open Access) We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced recurrent episodes o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::390900cfc2b97ed6098c477dba1e8189
https://hdl.handle.net/2066/291135

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CONGENITAL MYOPATHIES 1 – NEMALINE: P.18 KBTBD13, NEM6 congenital myopathy: deep muscle phenotyping reveals ring-rods fibers, nuclear clumps, and protein aggregates as new morphologic markers

Autor: Bouman, K., Küsters, B., De Winter, J., Gllet, C., Van Kleef, E., Eshuis, L., Brochier, G., Madelaine, A., Labasse, C., Boulogne, C., Van Engelen, B., Ottenheijm, C., Olive, M., Romero, N., Voermans, N., Malfatti, E.

Publikováno v: In Neuromuscular Disorders October 2020 30 Supplement 1:S53-S53

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.

Autor: Bouman K; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Paris-Saclay, France., Küsters B; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., De Winter JM; Department of Physiology, Amsterdam University Medical Center, VUmc, The Netherlands., Gillet C; Cytometry/Electronic Microscopy/Light Microscopy Facility, Imagerie-Gif, Institute for Integrative Biology of the Cell I2BC), CEA, CNRS, Univ. Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France., Van Kleef ESB; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Eshuis L; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Brochier G; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France., Madelaine A; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France., Labasse C; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France., Boulogne C; Cytometry/Electronic Microscopy/Light Microscopy Facility, Imagerie-Gif, Institute for Integrative Biology of the Cell I2BC), CEA, CNRS, Univ. Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France., Van Engelen BGM; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Ottenheijm CAC; Department of Physiology, Amsterdam University Medical Center, VUmc, The Netherlands., Romero NB; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Université Sorbonne, INSERM UMRS974, Center for Research in Myology, Centre de référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Paris, France., Voermans NC; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Malfatti E; U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Paris-Saclay, France.; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Garches, France.

Publikováno v: Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2021 Mar 22; Vol. 80 (4), pp. 366-376.

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