Article
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Neuromuscular disorders : NMD - 1 Nov 2017
Abath Neto Osorio, Moreno Cristiane de Araújo Martins, Malfatti Edoardo, Donkervoort Sandra, Böhm Johann, Guimarães Júlio Brandão, Foley A Reghan, Mohassel Payam, Dastgir Jahannaz, Bharucha-Goebel Diana Xerxes, Monges Soledad, Lubieniecki Fabiana, Collins James, Medne Līvija, Santi Mariarita, Yum Sabrina, Banwell Brenda, Salort-Campana Emmanuelle, Rendu John, Fauré Julien, Yis Uluc, Eymard Bruno, Cheraud Chrystel, Schneider Raphaël, Thompson Julie, Lornage Xaviere, Mesrob Lilia, Lechner Doris, Boland Anne, Deleuze Jean-François, Reed Umbertina Conti, Oliveira Acary Souza Bulle, Biancalana Valérie, Romero Norma B, Bönnemann Carsten G, Laporte Jocelyn, Zanoteli Edmar
Abstract excerpt
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive...
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