Neuromuscular syndrome associated with the 3291T-->C mutation of mitochondrial DNA: a second case.
Neuromuscul Disord
; 10(6): 415-8, 2000 Aug.
Article
em En
| MEDLINE
| ID: mdl-10899447
ABSTRACT
A mutation was found in an Italian child affecting the gene encoding the mitochondrial transfer RNA for leucine (codon UUR). This mutation (3291T-->C) had previously been reported in a single Japanese patient. In contrast with the original patient, who suffered from early-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), our patient presented an apparently isolated mild myopathy. Mutational analysis in the proband and her family showed that the mutation was heteroplasmic, and that its relative amount was positively correlated with the severity of the phenotype. These findings lead to the definitive confirmation that the 3291T-->C is indeed pathogenic. As commonly found in mitochondrial-DNA related disorders, also for this mutation different clinical manifestations can be associated with the same genetic abnormality.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Mutação Puntual
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Miopatias Mitocondriais
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Doenças Neuromusculares
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Child
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Female
/
Humans
Idioma:
En
Revista:
Neuromuscul Disord
Ano de publicação:
2000
Tipo de documento:
Article