Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA
Journal of the Korean Neurological Association
;
: 260-264, 2006.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
ADN mitochondrial
/
Séquences répétées d'acides nucléiques
/
Rétinite pigmentaire
/
Syndrome de Kearns-Sayre
/
Réaction de polymérisation en chaîne
/
Analyse de séquence d'ADN
/
Mitochondries
Limites du sujet:
Adolescent
/
Humains
/
Mâle
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
2006
Type:
Article
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