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

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Arquivos
art_NETO_Common_and_variable_clinical_histological_and_imaging_findings_2017.PDF (2.12 MB)
Citações na Scopus
31
Tipo de produção
article
Data de publicação
2017
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
PERGAMON-ELSEVIER SCIENCE LTD
Autores
MALFATTI, Edoardo
DONKERVOORT, Sandra
BOHM, Johann
GUIMARAES, Julio Brandao
FOLEY, A. Reghan
MOHASSEL, Payam
DASTGIR, Jahannaz
BHARUCHA-GOEBEL, Diana Xerxes
Citação
NEUROMUSCULAR DISORDERS, v.27, n.11, p.975-985, 2017
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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.
Palavras-chave
RYR1, Centronuclear myopathy, Congenital myopathies
URI
https://observatorio.fm.usp.br/handle/OPI/25595
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MNE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/15
Artigos e Materiais de Revistas Científicas - LIM/45