A Case of Leber's Hereditary Optic Nouropathy Showing 11778 Point Mutation of Mitochondrial DNA / 영남의대학술지
Yeungnam University Journal of Medicine
;
: 114-118, 1999.
Artículo
en Coreano
| WPRIM
| ID: wpr-105673
ABSTRACT
Leber's hereditary optic neuropathy(LHON) is an optic nerve disease that causes blindness and is associated with maternally inherited mitochondrial DNA(mt DNA) mutations. The most common mitochondrial DNA mutation among LHON patients is a point mutation at the nucleotide 11778 in the subunit 4 of complex I. In one 45-year old male LHON patient with bilateral optic neuropathy, we investigated the presence of a point mutation of mitochondrial DNA and identified a single guanine to adenine transition mutation in the mitochondrial DNA at nucleotide point 11778.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
ADN Mitocondrial
/
Adenina
/
Enfermedades del Nervio Óptico
/
Ceguera
/
Mutación Puntual
/
Atrofia Óptica Hereditaria de Leber
/
Guanina
Límite:
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Yeungnam University Journal of Medicine
Año:
1999
Tipo del documento:
Artículo
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