Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

Author Neto, Osorio Abath Google Scholar
Martins Moreno, Cristiane de Araujo Google Scholar
Malfatti, Edoardo Google Scholar
Donkervoort, Sandra Google Scholar
Bohm, Johann Google Scholar
Guimaraes, Julio Brandao Google Scholar
Foley, A. Reghan Google Scholar
Mohassel, Payam Google Scholar
Dastgir, Jahannaz Google Scholar
Bharucha-Goebel, Diana Xerxes Google Scholar
Monges, Soledad Google Scholar
Lubieniecki, Fabiana Google Scholar
Collins, James Google Scholar
Medne, Livija Google Scholar
Santi, Mariarita Google Scholar
Yum, Sabrina Google Scholar
Banwell, Brenda Google Scholar
Salort-Campana, Emmanuelle Google Scholar
Rendu, John Google Scholar
Faure, Julien Google Scholar
Yis, Uluc Google Scholar
Eymard, Bruno Google Scholar
Cheraud, Chrystel Google Scholar
Schneider, Raphael Google Scholar
Thompson, Julie Google Scholar
Lornage, Xaviere Google Scholar
Mesrob, Lilia Google Scholar
Lechner, Doris Google Scholar
Boland, Anne Google Scholar
Deleuze, Jean-Francois Google Scholar
Reed, Umbertina Conti Google Scholar
Bulle Oliveira, Acary Souza Autor UNIFESP Google Scholar
Biancalana, Valerie Google Scholar
Romero, Norma B. Google Scholar
Bonnemann, Carsten G. Google Scholar
Laporte, Jocelyn Google Scholar
Zanoteli, Edmar Google Scholar
Abstract 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 RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Early onset of symptoms with hypotonia, motor developmental delay, proximal muscle weakness, and a stable course were common clinical features in the cohort. Ptosis and/or ophthalmoparesis, facial weakness, thoracic deformities, and spinal involvement were also frequent but variable. A common imaging pattern consisted of selective involvement of the vastus lateralis, adductor magnus, and biceps brachii in Comparison to adjacent muscles. In addition to a variable prominence of central nuclei, muscle biopsy from 20 patients showed type 1 fiber predominance and a wide range of intermyofibrillary architecture abnormalities. All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. This work expands the phenotypic characterization of patients with recessive RYR1-related centronuclear myopathy by highlighting common and variable clinical, histological, and imaging findings in these patients. (C) 2017 Elsevier B.V. All rights reserved.
Keywords RYR1
Centronuclear myopathy
Congenital myopathies
xmlui.dri2xhtml.METS-1.0.item-coverage Oxford
Language English
Sponsor Institut National de la Sante et de la Recherche Medicale (INSERM)
France Genomique National infrastructure as part of the Investissements d'Avenir program
Fondation Maladies Rares
Association Francaise contre les Myopathies]
Muscular Dystrophy Association
Myotubular Trust and Sparks the Children's medical research charity
CAPES Foundation, Ministry of Education of Brazil
Grant number France Genomique National infrastructure as part of the Investissements d'Avenir program: ANR-10-INBS-09
Association Francaise contre les Myopathies: AFM-17088
Muscular Dystrophy Association: MDA-186985
CAPES: 1286/51-2
Date 2017
Published in Neuromuscular Disorders. Oxford, v. 27, n. 11, p. 975-985, 2017.
ISSN 0960-8966 (Sherpa/Romeo, impact factor)
Publisher Pergamon-Elsevier Science Ltd
Extent 975-985
Origin http://dx.doi.org/10.1016/j.nmd.2017.05.016
Access rights Closed access
Type Article
Web of Science ID WOS:000416197000001
URI https://repositorio.unifesp.br/handle/11600/58261

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