Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review.
J Neurol
; 238(3): 171-6, 1991 Jun.
Article
em En
| MEDLINE
| ID: mdl-1908005
ABSTRACT
Various mitochondrial DNA abnormalities have been described in patients with encephalomyopathies. We performed Southern blot analysis of skeletal muscle mitochondrial DNA in nine adult patients with clinical features and ragged red fibres suggesting mitochondrial dysfunction. Two patients with encephalomyopathy and two with the MERRF syndrome (myoclonus epilepsy with ragged red fibres) had the normal PvuII restriction pattern of muscle mitochondrial DNA. In contrast, mitochondrial DNA deletion was observed in two of six patients with ophthalmoplegia. One suffered from typical Kearns-Sayre syndrome and the other from isolated external ophthalmoplegia. None of these patients had affected relatives. The detection of mitochondrial DNA deletion in external ophthalmoplegia and their site and size support previously reported data.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
DNA Mitocondrial
/
Epilepsias Mioclônicas
/
Mitocôndrias Musculares
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Neurol
Ano de publicação:
1991
Tipo de documento:
Article
País de afiliação:
França