Article
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Neurology - 15 Sept 2020
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
Abstract excerpt
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 up for several decades. RESULTS: The clinical phenotype was marked by severe axial muscle weakness, spinal rigidity,...
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