The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series

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 pediatric and adult patients (2–58 years) followed...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurology
Prif Awduron: Villar-Quiles, Rocio N., von der Hagen, Maja, Métay, Corinne, Gonzalez, Victoria, Donkervoort, Sandra, Bertini, Enrico, Castiglioni, Claudia, Chaigne, Denys, Colomer, Jaume, Cuadrado, Maria Luz, de Visser, Marianne, Desguerre, Isabelle, Eymard, Bruno, Goemans, Nathalie, Kaindl, Angela, Lagrue, Emmanuelle, Lütschg, Jürg, Malfatti, Edoardo, Mayer, Michèle, Merlini, Luciano, Orlikowski, David, Reuner, Ulrike, Salih, Mustafa A., Schlotter-Weigel, Beate, Stoetter, Mechthild, Straub, Volker, Topaloglu, Haluk, Urtizberea, J. Andoni, van der Kooi, Anneke, Wilichowski, Ekkehard, Romero, Norma B., Fardeau, Michel, Bönnemann, Carsten G., Estournet, Brigitte, Richard, Pascale, Quijano-Roy, Susana, Schara, Ulrike, Ferreiro, Ana
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7713742/
https://ncbi.nlm.nih.gov/pubmed/32796131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000010327
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