Mitochondrial genome analysis in Kearns-Sayre syndrome.
Southeast Asian J Trop Med Public Health
;
1995 ; 26 Suppl 1(): 162-5
Artículo
en Inglés
| IMSEAR
| ID: sea-35664
ABSTRACT
We analysed the mitochondrial genome of one patient with chronic and progressive bilateral ophthalmoplegia. This patient also had abnormal EKG showing cardiac conduction defects and pigmentary retinopathy, suggestive of the Kearns-Sayre syndrome. On muscle biopsy, with Gomori trichrome stain, the fibers showed an increase in red-staining material in the intermyofibrillary network and the subsarcolemmal region. On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. Analysis of mitochondrial DNA (mtDNA) from the patient and her mother showed no deleted mtDNA.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Femenino
/
Humanos
/
ADN Mitocondrial
/
Mapeo Restrictivo
/
Síndrome de Kearns-Sayre
/
Eliminación de Secuencia
/
Mutación Puntual
/
Músculo Esquelético
Idioma:
Inglés
Revista:
Southeast Asian J Trop Med Public Health
Año:
1995
Tipo del documento:
Artículo
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