| pubmed-article:1848674 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1848674 | lifeskim:mentions | umls-concept:C0007634 | lld:lifeskim |
| pubmed-article:1848674 | lifeskim:mentions | umls-concept:C0035203 | lld:lifeskim |
| pubmed-article:1848674 | lifeskim:mentions | umls-concept:C0026237 | lld:lifeskim |
| pubmed-article:1848674 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
| pubmed-article:1848674 | lifeskim:mentions | umls-concept:C0597295 | lld:lifeskim |
| pubmed-article:1848674 | lifeskim:mentions | umls-concept:C1160179 | lld:lifeskim |
| pubmed-article:1848674 | lifeskim:mentions | umls-concept:C1533691 | lld:lifeskim |
| pubmed-article:1848674 | lifeskim:mentions | umls-concept:C0243067 | lld:lifeskim |
| pubmed-article:1848674 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:1848674 | pubmed:dateCreated | 1991-4-22 | lld:pubmed |
| pubmed-article:1848674 | pubmed:abstractText | A severe mitochondrial protein synthesis defect in myoblasts from a patient with mitochondrial myopathy was transferred with myoblast mitochondria into two genetically unrelated mitochondrial DNA (mtDNA)-less human cell lines, pointing to an mtDNA alteration as being responsible and sufficient for causing the disease. The transfer of the defect correlated with marked deficiencies in respiration and cytochrome c oxidase activity of the transformants and the presence in their mitochondria of mtDNA carrying a tRNA(Lys) mutation. Furthermore, apparently complete segregation of the defective genotype and phenotype was observed in the transformants derived from the heterogeneous proband myoblast population, suggesting that the mtDNA heteroplasmy in this population was to a large extent intercellular. The present work thus establishes a direct link between mtDNA alteration and a biochemical defect. | lld:pubmed |
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| pubmed-article:1848674 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1848674 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1848674 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:1848674 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1848674 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:1848674 | pubmed:issn | 0270-7306 | lld:pubmed |
| pubmed-article:1848674 | pubmed:author | pubmed-author:ScarlatoGG | lld:pubmed |
| pubmed-article:1848674 | pubmed:author | pubmed-author:AttardiGG | lld:pubmed |
| pubmed-article:1848674 | pubmed:author | pubmed-author:MeolaGG | lld:pubmed |
| pubmed-article:1848674 | pubmed:author | pubmed-author:BresolinNN | lld:pubmed |
| pubmed-article:1848674 | pubmed:author | pubmed-author:LaiS TST | lld:pubmed |
| pubmed-article:1848674 | pubmed:author | pubmed-author:ChomynAA | lld:pubmed |
| pubmed-article:1848674 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1848674 | pubmed:volume | 11 | lld:pubmed |
| pubmed-article:1848674 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1848674 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1848674 | pubmed:pagination | 2236-44 | lld:pubmed |
| pubmed-article:1848674 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:1848674 | pubmed:year | 1991 | lld:pubmed |
| pubmed-article:1848674 | pubmed:articleTitle | In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. | lld:pubmed |
| pubmed-article:1848674 | pubmed:affiliation | Division of Biology, California Institute of Technology, Pasadena 91125. | lld:pubmed |
| pubmed-article:1848674 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1848674 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1848674 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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