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Title: Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Authors: Neto, Osorio Abath
Martins Moreno, Cristiane de Araujo
Malfatti, Edoardo
Donkervoort, Sandra
Bohm, Johann
Guimaraes, Julio Brandao
Foley, A. Reghan
Mohassel, Payam
Dastgir, Jahannaz
Bharucha-Goebel, Diana Xerxes
Monges, Soledad
Lubieniecki, Fabiana
Collins, James
Medne, Livija
Santi, Mariarita
Yum, Sabrina
Banwell, Brenda
Salort-Campana, Emmanuelle
Rendu, John
Faure, Julien
Yis, Uluc
Eymard, Bruno
Cheraud, Chrystel
Schneider, Raphael
Thompson, Julie
Lornage, Xaviere
Mesrob, Lilia
Lechner, Doris
Boland, Anne
Deleuze, Jean-Francois
Reed, Umbertina Conti
Bulle Oliveira, Acary Souza [UNIFESP]
Biancalana, Valerie
Romero, Norma B.
Bonnemann, Carsten G.
Laporte, Jocelyn
Zanoteli, Edmar
Keywords: RYR1
Centronuclear myopathy
Congenital myopathies
Issue Date: 2017
Publisher: Pergamon-Elsevier Science Ltd
Citation: Neuromuscular Disorders. Oxford, v. 27, n. 11, p. 975-985, 2017.
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.
ISSN: 0960-8966
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