PHENOTYPIC DIFFERENCES BETWEEN T-]C AND T-]G MUTATIONS AT NT-8993 OF MITOCHONDRIAL-DNA IN LEIGH-SYNDROME

Citation
T. Fujii et al., PHENOTYPIC DIFFERENCES BETWEEN T-]C AND T-]G MUTATIONS AT NT-8993 OF MITOCHONDRIAL-DNA IN LEIGH-SYNDROME, Pediatric neurology, 18(3), 1998, pp. 275-277
Citations number
11
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Clinical Neurology",Pediatrics
Journal title
ISSN journal
0887-8994
Volume
18
Issue
3
Year of publication
1998
Pages
275 - 277
Database
ISI
SICI code
0887-8994(1998)18:3<275:PDBTAT>2.0.ZU;2-U
Abstract
This study reports on a patient with Leigh syndrome with a T-to-C muta tion at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C ), The authors reviewed 10 Leigh syndrome patients, including ours, wi th T8993C, Compared with 18 reported patients with Leigh syndrome caus ed by a T-to-G mutation at nucleotide 8993 (T8993G), Leigh syndrome wi th T8993C was characterized by a significantly higher frequency of ata xia (P < 0.01), None of the reviewed T8993C-associated Leigh syndrome patients had retinitis pigmentosa, which is one of the characteristic findings in Leigh syndrome with T8993G. The milder symptoms of T8993C- Leigh syndrome can be explained by the milder complex V dysfunction; h owever, the higher frequency of ataxia in T8993C-Leigh syndrome requir es more study. (C) 1998 by Elsevier Science Inc. All rights reserved.