Please use this identifier to cite or link to this item:
|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
Guimaraes, Julio Brandao
Foley, A. Reghan
Bharucha-Goebel, Diana Xerxes
Reed, Umbertina Conti
Bulle Oliveira, Acary Souza [UNIFESP]
Romero, Norma B.
Bonnemann, Carsten G.
|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.|
|Appears in Collections:||Artigo|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.