Journal article
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Neuromuscular disorders : NMD, Vol.27(11), pp.975-985
11/2017
DOI: 10.1016/j.nmd.2017.05.016
PMID: 28818389
Abstract
•Large international cohort in a collaborative effort to detail AR RYR1-CNM patients.•Ocular, facial, respiratory, and thoracospinal involvement were frequent but variable.•Nuclear centralization and NADH abnormalities may tend to increase with age.•Imaging data suggest common patterns similar to other RYR1-related disorders.
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.
Details
- Title: Subtitle
- Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
- Creators
- Osorio Abath Neto - Universidade de São PauloCristiane de Araújo Martins Moreno - Universidade de São PauloEdoardo Malfatti - Université Paris CitéSandra Donkervoort - National Institutes of HealthJohann Böhm - Université de StrasbourgJúlio Brandão Guimarães - DaimlerChrysler AerospaceA. Reghan Foley - National Institutes of HealthPayam Mohassel - National Institutes of HealthJahannaz Dastgir - National Institutes of HealthDiana Xerxes Bharucha-Goebel - National Institutes of HealthSoledad Monges - Garrahan HospitalFabiana Lubieniecki - Garrahan HospitalJames Collins - Cincinnati Children's Hospital Medical CenterLīvija Medne - Children's Hospital of PhiladelphiaMariarita Santi - Children's Hospital of PhiladelphiaSabrina Yum - Children's Hospital of PhiladelphiaBrenda Banwell - Children's Hospital of PhiladelphiaEmmanuelle Salort-Campana - Aix-Marseille UniversitéJohn Rendu - Université Grenoble AlpesJulien Fauré - Université Grenoble AlpesUluc Yis - Dokuz Eylül UniversityBruno Eymard - Paris-Est Neuromuscular Center, APHP - GH Pitié-Salpêtrière, Paris, France.Chrystel Cheraud - Université de StrasbourgRaphaël Schneider - Université de StrasbourgJulie Thompson - Centre National de la Recherche ScientifiqueXaviere Lornage - Université de StrasbourgLilia Mesrob - Centre National de Recherche en Génomique HumaineDoris Lechner - Centre National de Recherche en Génomique HumaineAnne Boland - Centre National de Recherche en Génomique HumaineJean-François Deleuze - Centre National de Recherche en Génomique HumaineUmbertina Conti Reed - Universidade de São PauloAcary Souza Bulle Oliveira - Universidade Federal de São PauloValérie Biancalana - Université de StrasbourgNorma B Romero - Université Paris CitéCarsten G Bönnemann - National Institutes of HealthJocelyn Laporte - Université de StrasbourgEdmar Zanoteli - Universidade de São Paulo
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.27(11), pp.975-985
- DOI
- 10.1016/j.nmd.2017.05.016
- PMID
- 28818389
- NLM abbreviation
- Neuromuscul Disord
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Publisher
- Elsevier B.V
- Grant note
- DOI: 10.13039/501100001677, name: Institut National de la Santé et de la Recherche Médicale; name: France Génomique National infrastructure; name: Agence Nationale pour la Recherche, award: ANR-10-INBS-09; DOI: 10.13039/100014865, name: Fondation Maladies Rares; DOI: 10.13039/100007393, name: Association Française contre les Myopathies, award: AFM-17088); DOI: 10.13039/100005202, name: Muscular Dystrophy Association, award: MDA-186985; name: Myotubular Trust and Sparks; name: CAPES Foundation, Ministry of Education of Brazil, award: 1286/51-2
- Language
- English
- Date published
- 11/2017
- Academic Unit
- Pathology
- Record Identifier
- 9984277262202771
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