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| pubmed-article:8651277 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:8651277 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:8651277 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
| pubmed-article:8651277 | lifeskim:mentions | umls-concept:C0035725 | lld:lifeskim |
| pubmed-article:8651277 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
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| pubmed-article:8651277 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:8651277 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:8651277 | pubmed:dateCreated | 1996-7-25 | lld:pubmed |
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| pubmed-article:8651277 | pubmed:abstractText | A novel G8363A mutation in the mtDNA tRNA(Lys) gene was associated, in two unrelated families, with a syndrome consisting of encephalomyopathy, sensorineural hearing loss, and hypertrophic cardiomyopathy. Muscle biopsies from the probands showed mitochondrial proliferation and partial defects of complexes I, III, and IV of the electron-transport chain. The G8363A mutation was very abundant (>95%) in muscle samples from the probands and was less copious in blood from 18 maternal relatives (mean 81.3% +/- 8.5%). Single-muscle-fiber analysis showed significantly higher levels of mutant genomes in cytochrome (c) oxidase-negative fibers than in cytochrome (c) oxidase-positive fibers. The mutation was not found in >200 individuals, including normal controls and patients with other mitochondrial encephalomyopathies, thus fulfilling accepted criteria for pathogenicity. | lld:pubmed |
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| pubmed-article:8651277 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8651277 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8651277 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:8651277 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8651277 | pubmed:month | May | lld:pubmed |
| pubmed-article:8651277 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:8651277 | pubmed:author | pubmed-author:DiMauroSS | lld:pubmed |
| pubmed-article:8651277 | pubmed:author | pubmed-author:MaxS RSR | lld:pubmed |
| pubmed-article:8651277 | pubmed:author | pubmed-author:MadridR ERE | lld:pubmed |
| pubmed-article:8651277 | pubmed:author | pubmed-author:ShanskeSS | lld:pubmed |
| pubmed-article:8651277 | pubmed:author | pubmed-author:BaramT ZTZ | lld:pubmed |
| pubmed-article:8651277 | pubmed:author | pubmed-author:CasaliCC | lld:pubmed |
| pubmed-article:8651277 | pubmed:author | pubmed-author:SantorelliF... | lld:pubmed |
| pubmed-article:8651277 | pubmed:author | pubmed-author:El-SchahawiMM | lld:pubmed |
| pubmed-article:8651277 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8651277 | pubmed:volume | 58 | lld:pubmed |
| pubmed-article:8651277 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8651277 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8651277 | pubmed:pagination | 933-9 | lld:pubmed |
| pubmed-article:8651277 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:8651277 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8651277 | pubmed:articleTitle | Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). | lld:pubmed |
| pubmed-article:8651277 | pubmed:affiliation | H. Houston Merritt Center for Muscular Research and Related Disorders, Department of Neurology, Columbia University 10032, New York, USA. | lld:pubmed |
| pubmed-article:8651277 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8651277 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:8651277 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:8651277 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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