A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels

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art_NETO_A_Study_of_a_Cohort_of_XLinked_Myotubular_2016.PDF (1.48 MB)
Citações na Scopus
13
Tipo de produção
article
Data de publicação
2016
Editora
ELSEVIER SCIENCE INC
DOI
Indexadores
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Autores
SILVA, Marina Rodrigues e
OLIVEIRA, Acary de Souza Bulle
BIANCALANA, Valerie
PESQUERO, Joao Bosco
LAPORTE, Jocelyn
Autor de Grupo de pesquisa
Editores
Coordenadores
Organizadores
Citação
PEDIATRIC NEUROLOGY, v.58, p.107-112, 2016
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
BACKGROUND: Myotubular myopathy is a rare X-linked congenital myopathy characterized by marked neonatal hypotonia and respiratory insufficiency, facial and ocular involvement, and muscle biopsy with prominent central nuclei in the majority of muscle fibers. It is caused by mutations in MTM1, which codes for the phosphoinositides phosphatase myotubularin. In this work, we established and detailed a new cohort of six patients at the clinical, histologic, and genetic levels. PATIENTS AND METHODS: Patients were recruited after screening 3065 muscle biopsy reports from two large biopsy banks in Sao Paulo, Brazil from the years 2008 to 2013, and from referrals to a neuromuscular outpatient clinic between 2011 and 2013. We reviewed biopsy slides, evaluated patients, and Sanger sequenced MTM1 in the families. RESULTS: All patients but one had classic phenotypes with a stable course after a severe onset. Two patients died suddenly from hypovolemic shock. Muscle biopsies had been performed in five patients, all of whom showed a classic pattern with a predominance of centrally located nuclei and increased oxidative activity in the center of the fibers. Two patients showed necklace fibers, and two families had novel truncating mutations in MTM1. CONCLUSIONS: X-linked myotubular myopathy is rare in the Brazilian population. Necklace fibers might be more prevalent in this condition than previously reported. Direct Sanger sequencing of MTM1 on clinical suspicion avoids the need of a muscle biopsy.
Palavras-chave
centronuclear myopathy, myotubular myopathy, MTM1, myotubularin, congenital myopathy
URI
https://observatorio.fm.usp.br/handle/OPI/16219
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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