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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2008-1-7
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pubmed:abstractText |
Mitochondrial DNA (mtDNA) mutations are important causes of human genetic disease, with mutations in tRNA genes particularly prevalent. In many patients, mutations are heteroplasmic, affecting a population of mtDNA molecules. Establishing the pathogenicity of homoplasmic mitochondrial tRNA (mt-tRNA) mutations, in which the mutation is present in every mtDNA molecule, is extremely difficult. These mutations must conform to specific pathogenic criteria, documenting unequivocally a functional defect of the mutant mt-tRNA.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:CarrozzoRR,
pubmed-author:DiMauroSS,
pubmed-author:FattoriFF,
pubmed-author:MartindaleJ EJE,
pubmed-author:McFarlandRR,
pubmed-author:OlpinS ESE,
pubmed-author:SantorelliF MFM,
pubmed-author:SenecaSS,
pubmed-author:TaylorR WRW,
pubmed-author:TreacyE PEP,
pubmed-author:TuppenH A LHA,
pubmed-author:ZevianiMM
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pubmed:issnType |
Electronic
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
55-61
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pubmed:meshHeading |
pubmed-meshheading:18178636-Adult,
pubmed-meshheading:18178636-Biopsy,
pubmed-meshheading:18178636-Cells, Cultured,
pubmed-meshheading:18178636-Child,
pubmed-meshheading:18178636-DNA, Mitochondrial,
pubmed-meshheading:18178636-DNA Mutational Analysis,
pubmed-meshheading:18178636-Female,
pubmed-meshheading:18178636-Fibroblasts,
pubmed-meshheading:18178636-Humans,
pubmed-meshheading:18178636-Infant,
pubmed-meshheading:18178636-Male,
pubmed-meshheading:18178636-Mitochondria, Heart,
pubmed-meshheading:18178636-Mitochondria, Muscle,
pubmed-meshheading:18178636-Mitochondrial Diseases,
pubmed-meshheading:18178636-Muscle, Skeletal,
pubmed-meshheading:18178636-Mutation,
pubmed-meshheading:18178636-Polymorphism, Genetic,
pubmed-meshheading:18178636-RNA,
pubmed-meshheading:18178636-RNA, Transfer, Thr,
pubmed-meshheading:18178636-Skin
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pubmed:year |
2008
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pubmed:articleTitle |
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.
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pubmed:affiliation |
Mitochondrial Research Group, Department of Neurology, Medical School, Newcastle University, Newcastle-upon-Tyne, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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