Document Detail


Unusual findings in Leigh syndrome caused by T8993C mutation.
MedLine Citation:
PMID:  19046652     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The pathological nature of Leigh syndrome is highly variable and depends on the underlying mitochondrial or nuclear genome defect. Mitochondrial m.8993T>G and m.8993T>C mutations are responsible for both NARP (neurogenic weakness, ataxia and retinitis pigmentosa) and Leigh syndrome depending on the amount of mutant mtDNA. The clinical findings of Leigh syndrome caused by the m.8993T>C mutation are less severe than those associated with the m.8993T>G mutation, and ragged red fibers, oligoclonal bands in cerebrospinal fluid, and additional deficiencies of respiratory enzyme complexes are usually not found. This report presents a two year old girl with Leigh syndrome caused by a m.8993T>C mutation. Interestingly she had ragged red fibers in muscle tissue, oligoclonal bands in CSF and focal deficient histochemical staining for complexes I and IV.
Authors:
Ulu?? Yi??; Sara Seneca; Eray Dirik; Semra Hiz Kurul; Erdener Ozer; Handan Cakmak??i; Linda De Meirleir
Publication Detail:
Type:  Journal Article     Date:  2008-11-30
Journal Detail:
Title:  European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society     Volume:  13     ISSN:  1532-2130     ISO Abbreviation:  Eur. J. Paediatr. Neurol.     Publication Date:  2009 Nov 
Date Detail:
Created Date:  2009-11-02     Completed Date:  2010-01-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9715169     Medline TA:  Eur J Paediatr Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  550-2     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Division of Child Neurology, Dokuz Eyl??l University School of Medicine, 35340 Izmir, Turkey. ulyis@yahoo.com
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MeSH Terms
Descriptor/Qualifier:
Brain / pathology
Child, Preschool
DNA, Mitochondrial / genetics*
Electron Transport Complex I / deficiency
Female
Humans
Leigh Disease / cerebrospinal fluid,  genetics*,  pathology
Magnetic Resonance Imaging / methods
Mitochondrial Proton-Translocating ATPases / deficiency
Muscle, Skeletal / pathology
Mutation / genetics*
Oligoclonal Bands / cerebrospinal fluid
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial; 0/Oligoclonal Bands; 0/complex V (mitochondrial oxidative phosphorylation system); EC 1.6.5.3/Electron Transport Complex I; EC 3.6.3.-/Mitochondrial Proton-Translocating ATPases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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