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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2010-2-9
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pubmed:abstractText |
To present 2 families with maternally inherited severe epilepsy as the main symptom of mitochondrial disease due to point mutations at position 616 in the mitochondrial tRNA(Phe) (MT-TF) gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:HamidaA BAB,
pubmed-author:JardelCC,
pubmed-author:KornblumCC,
pubmed-author:KunzW SWS,
pubmed-author:LavouéSS,
pubmed-author:LombèsAA,
pubmed-author:MarcorellesPP,
pubmed-author:MirandolaS RSR,
pubmed-author:NelsonII,
pubmed-author:SassenRR,
pubmed-author:ZsurkaGG
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pubmed:issnType |
Electronic
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pubmed:day |
9
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pubmed:volume |
74
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
507-12
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pubmed:dateRevised |
2010-4-28
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pubmed:meshHeading |
pubmed-meshheading:20142618-Adolescent,
pubmed-meshheading:20142618-Anticonvulsants,
pubmed-meshheading:20142618-DNA, Mitochondrial,
pubmed-meshheading:20142618-Electron Transport Complex IV,
pubmed-meshheading:20142618-Epilepsy,
pubmed-meshheading:20142618-Family Health,
pubmed-meshheading:20142618-Female,
pubmed-meshheading:20142618-Humans,
pubmed-meshheading:20142618-Male,
pubmed-meshheading:20142618-Mitochondrial Diseases,
pubmed-meshheading:20142618-Muscle, Skeletal,
pubmed-meshheading:20142618-Mutation,
pubmed-meshheading:20142618-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:20142618-RNA, Transfer, Phe,
pubmed-meshheading:20142618-Succinate Dehydrogenase,
pubmed-meshheading:20142618-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.
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pubmed:affiliation |
Department of Epileptology and Life & Brain Center, University of Bonn, Bonn, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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