Source:http://linkedlifedata.com/resource/pubmed/id/10076022
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
1999-3-18
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pubmed:abstractText |
Over the past decade a large body of evidence has accumulated implicating defects of human mitochondrial DNA in the pathogenesis of a group of disorders known collectively as the mitochondrial encephalomyopathies. Although impaired oxidative phosphorylation is likely to represent the final common pathway leading to cellular dysfunction in these diseases, fundamental issues still remain elusive. Perhaps the most challenging of these is to understand the mechanisms which underlie the complex relationship between genotype and phenotype. Here we examine this relationship and discuss some of the factors which are likely to be involved.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0006-3002
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
9
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pubmed:volume |
1410
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
125-45
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10076022-Brain Diseases,
pubmed-meshheading:10076022-DNA, Mitochondrial,
pubmed-meshheading:10076022-Gene Rearrangement,
pubmed-meshheading:10076022-Genotype,
pubmed-meshheading:10076022-Humans,
pubmed-meshheading:10076022-Mitochondria,
pubmed-meshheading:10076022-Mutation,
pubmed-meshheading:10076022-Phenotype,
pubmed-meshheading:10076022-Protein Biosynthesis,
pubmed-meshheading:10076022-Proteins,
pubmed-meshheading:10076022-RNA, Transfer
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pubmed:year |
1999
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pubmed:articleTitle |
Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype.
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pubmed:affiliation |
University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1H 3BG, UK.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Review,
Research Support, Non-U.S. Gov't
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