Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA
Journal of the Korean Neurological Association
;
: 260-264, 2006.
Artigo
em Coreano
| WPRIM
| ID: wpr-9070
ABSTRACT
Mitochondrial DNA (mtDNA) deletions have been found in a majority of patients with Kearns-Sayre syndrome (KSS). The proband, a 14-year-old male, presented with retinitis pigmentosa, bilateral ptosis with an external opthalmoplegia, and ragged-red fibers in his biceps. The common 5-kb deleted mtDNA was identified in the patient by a long template PCR and DNA sequencing analysis. The deletion was located within the 8469-1344 position and a 13-kb direct repeat sequence was shown in the junction.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
DNA Mitocondrial
/
Sequências Repetitivas de Ácido Nucleico
/
Retinose Pigmentar
/
Síndrome de Kearns-Sayre
/
Reação em Cadeia da Polimerase
/
Análise de Sequência de DNA
/
Mitocôndrias
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2006
Tipo de documento:
Artigo
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