A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy.
Neuromuscul Disord
; 10(2): 133-7, 2000 Feb.
Article
em En
| MEDLINE
| ID: mdl-10714588
ABSTRACT
X-linked myotubular myopathy (XLMTM) characteristically causes severe or fatal muscle weakness in male infants. Mutations in the gene MTM1, encoding the protein myotubularin, can be identified in most families. Prior to this report, XLMTM was thought not to cause symptomatic manifestations in female carriers. We describe an adult female from a large family with typical XLMTM. The patient had progressive disabling muscle weakness of later onset and lesser severity than that observed in affected males. The distribution of weakness resembled typical XLMTM with facial weakness, marked limb-girdle weakness, respiratory muscle involvement and dysphagia. Analysis of the MTM1 gene identified a heterozygous missense mutation (G378R) within the highly conserved tyrosine phosphatase site of myotubularin. We did not identify significantly skewed X-inactivation. We conclude that XLMTM is capable of causing significant disability in heterozygotes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Miopatias Congênitas Estruturais
/
Heterozigoto
/
Ligação Genética
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Neuromuscul Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Reino Unido