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Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies

Cited 24 time in Web of Science Cited 25 time in Scopus
Authors

Lim, Byung Chan; Park, Jun Dong; Hwang, Hee; Kim, Ki Joong; Chae, Jong-Hee; Kim, In One; Moon, Han Ku; Lee, Ran; Cheon, Jung-Eun; Hwang, Yong Seung

Issue Date
2009-07
Publisher
SAGE PUBLICATIONS INC
Citation
JOURNAL OF CHILD NEUROLOGY; Vol.24 7; 828-832
Keywords
childhood mitochondrial encephalopathyLeigh syndromerespiratory chainG13513AT10191C
Abstract
An increasing number of reports on mitochondrial DNA coding regions` Mutations, especially in mitochondrial DNA-encoded NADH dehydrogenase (ND) Subunit genes of the respiratory chain complex I, have been published recently, making it possible to improve the molecular diagnosis of many mitochondrial diseases in children with variable clinical features. This article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome overlap syndrome and atypical Leigh syndrome. These cases add to the increasing number of reports stating that mitochondrial DNA-encoded protein-coding regions are mutation hot spots in pediatric patients with encephalopathies with variable clinical spectra.
ISSN
0883-0738
Language
English
URI
https://hdl.handle.net/10371/76988
DOI
https://doi.org/10.1177/0883073808331085
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