MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.
Muscle Nerve
; 44(3): 448-51, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21996807
ABSTRACT
A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, and ragged-red fibers. The m.3291T>C mutation in the tRNA(Leu(UUR)) gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF/KSS syndrome.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Síndrome de Kearns-Sayre
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Síndrome MERRF
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Estados Unidos