X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
Yonsei Medical Journal
;
: 547-550, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-181460
ABSTRACT
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 infants with XLMTM which was diagnosed by gene analysis and muscle biopsy. In both cases, histological findings of muscle showed severely hypoplastic muscle fibers with centrally placed nuclei. From the family gene analysis, the Arg486STOP mutation in the MTM1 gene was confirmed.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Códon sem Sentido
/
Miopatias Congênitas Estruturais
/
Proteínas Tirosina Fosfatases não Receptoras
/
Hipotonia Muscular
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2011
Tipo de documento:
Artigo
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