Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy

Autor: A. Barois, Marlène Rio, Norma B. Romero, Marta Gomez Garcia de la Banda, Susana Quijano-Roy, Ana Ferreiro, Céline Bouchet-Séraphin, Rocio N. Villar-Quiles

Publikováno v: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2020, 7 (1), pp.69-76. ⟨10.3233/JND-190413⟩
Journal of Neuromuscular Diseases, 2020, 7 (1), pp.69-76. ⟨10.3233/JND-190413⟩

International audience; Muscular weakness and hypotonia may be associated with multisystem involvement giving rise to complex phenotypes, many of which are uncharacterized. We report a patient presenting with congenital hypotonia and severe ocular an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43aff6b84831b7299ca8bdba9d066d84
https://hal-cnrs.archives-ouvertes.fr/hal-03300569

The clinical, histologic, and genotypic spectrum of

Autor: Rocio N, Villar-Quiles, Maja, von der Hagen, Corinne, Métay, Victoria, Gonzalez, Sandra, Donkervoort, Enrico, Bertini, Claudia, Castiglioni, Denys, Chaigne, Jaume, Colomer, Maria Luz, Cuadrado, Marianne, de Visser, Isabelle, Desguerre, Bruno, Eymard, Nathalie, Goemans, Angela, Kaindl, Emmanuelle, Lagrue, Jürg, Lütschg, Edoardo, Malfatti, Michèle, Mayer, Luciano, Merlini, David, Orlikowski, Ulrike, Reuner, Mustafa A, Salih, Beate, Schlotter-Weigel, Mechthild, Stoetter, Volker, Straub, Haluk, Topaloglu, J Andoni, Urtizberea, Anneke, van der Kooi, Ekkehard, Wilichowski, Norma B, Romero, Michel, Fardeau, Carsten G, Bönnemann, Brigitte, Estournet, Pascale, Richard, Susana, Quijano-Roy, Ulrike, Schara, Ana, Ferreiro

Publikováno v: Neurology

OBJECTIVE: To clarify the prevalence, long-term natural history, and severity determinants of SEPN1-related myopathy (SEPN1-RM), we analyzed a large international case series. METHODS: Retrospective clinical, histologic, and genetic analysis of 132 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e88560683abbf952be2edde6fc9cd071
https://pubmed.ncbi.nlm.nih.gov/32796131