Document Detail


Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
MedLine Citation:
PMID:  8909383     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mitochondrial DNA is more susceptible than nuclear DNA to mutations. Mitochondrial mutations have been associated with a range of disorders, some of which can be inherited maternally as well as by mendelian patterns. The oxidative phosphorylation diseases are a group of such disorders characterised by a complex phenotype; the Kearns-Sayre syndrome, for example, can include cardiac abnormalities, diabetes mellitus, cerebellar ataxia, and deafness. An understanding of the genetic and biochemical basis of these disorders will help in the adoption of a systematic approach to their diagnosis and to patient management.
Authors:
J M Shoffner
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Lancet     Volume:  348     ISSN:  0140-6736     ISO Abbreviation:  Lancet     Publication Date:  1996 Nov 
Date Detail:
Created Date:  1996-12-09     Completed Date:  1996-12-09     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  2985213R     Medline TA:  Lancet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1283-8     Citation Subset:  AIM; IM    
Affiliation:
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.
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MeSH Terms
Descriptor/Qualifier:
DNA / genetics
DNA, Mitochondrial / genetics*
Extrachromosomal Inheritance*
Female
Gene Rearrangement
Humans
Kearns-Sayre Syndrome / genetics
Leigh Disease / genetics
MELAS Syndrome / genetics
MERRF Syndrome / genetics
Mitochondrial Encephalomyopathies / genetics
Mitochondrial Myopathies / genetics
Mutation
Oxidative Phosphorylation*
Point Mutation
Grant Support
ID/Acronym/Agency:
M01RR-00039/RR/NCRR NIH HHS; M01RR-00827/RR/NCRR NIH HHS; NS33999/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Mitochondrial; 9007-49-2/DNA

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


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