MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).
Neuropediatrics
; 42(4): 148-51, 2011 Aug.
Article
em En
| MEDLINE
| ID: mdl-21766266
ABSTRACT
Nearly all patients affected by myoclonic epilepsy with ragged-red fibres (MERRF) harbour a mutation in the mitochondrial transfer RNALys gene. We report on an 8-year-old girl with clinical and diagnostic features of MERRF. After excluding one of the common mutations associated with MERRF, a complete sequence analysis of the mitochondrial genome revealed an m.4284 G>A mutation in the mitochondrial transfer RNAIle gene. This mutation has only once been described in a family with variable clinical symptoms, but has not yet been linked to MERRF. This case extends the mutational spectrum associated with the MERRF phenotype, and demonstrates the importance of performing a comprehensive mutational analysis in patients with suspected mitochondrial disease when common mutations have been ruled out.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
RNA de Transferência de Isoleucina
/
Síndrome MERRF
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article