Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome

Yolanda Campos, Teresa Garcia-Silva, Carlos R. Barrionuevo, Ana Cabello, Rafael Muley, Joaquin Arenas

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

43 Citas (Scopus)

Resumen

Large-scale mitochondrial DNA deletion was found in a 5-year-old girl with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. Muscle biopsy disclosed ragged-red fibers and cytochrome c oxidase negative fibers. Respiratory chain studies were normal. Southern blot analysis demonstrated a 10.5-Kb heteroplasmic deletion in both muscle and blood. Deleted genomes represented 40% of total mitochondrial DNA in muscle and 63% in blood. There was no evidence of point mutations characteristic of MELAS. We suggest that not only patients with progressive external ophthalmoplegia syndromes, but also those with defined syndromes [e.g., MELAS or myoclonic epilepsy and ragged-red fibers (MERRF)] without characteristic point mutations, be screened for mitochondrial DNA deletions.

Idioma originalInglés
Páginas (desde-hasta)69-72
Número de páginas4
PublicaciónPediatric Neurology
Volumen13
N.º1
DOI
EstadoPublicada - jul. 1995
Publicado de forma externa

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