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

Autor: Cristiane de Araújo Martins Moreno, Valérie Biancalana, Julien Fauré, Jahannaz Dastgir, Lilia Mesrob, Soledad Monges, L. Medne, Edoardo Malfatti, Diana Bharucha-Goebel, Mariarita Santi, Emmanuelle Salort-Campana, James J. Collins, Raphaël Schneider, Chrystel Cheraud, A. Reghan Foley, Fabiana Lubieniecki, Norma B. Romero, Acary Souza Bulle Oliveira, Sandra Donkervoort, Julie Dawn Thompson, Osorio Abath Neto, Sabrina W. Yum, Carsten G. Bönnemann, John Rendu, Brenda Banwell, Johann Böhm, Anne Boland, Julio Brandao Guimaraes, Jocelyn Laporte, Xavière Lornage, Edmar Zanoteli, Bruno Eymard, Uluç Yiş, Payam Mohassel, Jean-François Deleuze, Umbertina Conti Reed, Doris Lechner
Přispěvatelé: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE)
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2017, 27 (11), pp.975-985. ⟨10.1016/j.nmd.2017.05.016⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Neuromuscular Disorders, 2017, 27 (11), pp.975-985. ⟨10.1016/j.nmd.2017.05.016⟩
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2017.05.016⟩
Popis: International audience; 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.
Databáze: OpenAIRE
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