Document Detail

A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.
MedLine Citation:
PMID:  17209980     Owner:  NLM     Status:  MEDLINE    
We report two male Taiwanese siblings in whom the T-->C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffuse white matter and the bilateral posterior limbs of the internal capsule. The m.9176T>C mutation is suggested as the cause of the bilateral striatal necrosis and Leigh syndrome. However, leukodystrophy in Leigh syndrome associated with m.9176T>C mutation has never been reported before. We suggest that m.9176T>C mutation could be a new aetiology for leukodystrophy in children with Leigh syndrome.
Po-Cheng Hung; Huei-Shyong Wang
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  49     ISSN:  0012-1622     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-01-09     Completed Date:  2007-02-15     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  65-7     Citation Subset:  IM    
Division of Pediatric Neurology, Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
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MeSH Terms
Acidosis, Lactic / complications
Brain / enzymology,  pathology
DNA, Mitochondrial / genetics*,  metabolism
Leigh Disease / enzymology,  genetics*,  pathology*
Leukodystrophy, Globoid Cell / enzymology,  genetics*,  pathology*
Mitochondrial Proton-Translocating ATPases / genetics*
Muscle, Skeletal / pathology
Point Mutation / genetics*
Reg. No./Substance:
0/DNA, Mitochondrial; EC 3.6.1.-/ATP synthase subunit 6; EC 3.6.3.-/Mitochondrial Proton-Translocating ATPases

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