| pubmed-article:9222976 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9222976 | lifeskim:mentions | umls-concept:C0878544 | lld:lifeskim |
| pubmed-article:9222976 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:9222976 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
| pubmed-article:9222976 | lifeskim:mentions | umls-concept:C0205082 | lld:lifeskim |
| pubmed-article:9222976 | lifeskim:mentions | umls-concept:C0449450 | lld:lifeskim |
| pubmed-article:9222976 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:9222976 | pubmed:dateCreated | 1997-9-18 | lld:pubmed |
| pubmed-article:9222976 | pubmed:abstractText | A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNALeu(UUR) gene at nt 3243 ("MELAS mutation"), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 16 maternal relatives identified lower percentages of the mutation only in the oligo-symptomatic mother and brother. This case reinforces the notion that cardiomyopathy can be the presenting and predominant clinical expression of the A3243G mutation. | lld:pubmed |
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| pubmed-article:9222976 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:9222976 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:9222976 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9222976 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:9222976 | pubmed:issn | 0022-2593 | lld:pubmed |
| pubmed-article:9222976 | pubmed:author | pubmed-author:DiMauroSS | lld:pubmed |
| pubmed-article:9222976 | pubmed:author | pubmed-author:VilarinhoLL | lld:pubmed |
| pubmed-article:9222976 | pubmed:author | pubmed-author:TavaresCC | lld:pubmed |
| pubmed-article:9222976 | pubmed:author | pubmed-author:SantorelliF... | lld:pubmed |
| pubmed-article:9222976 | pubmed:author | pubmed-author:RosasM JMJ | lld:pubmed |
| pubmed-article:9222976 | pubmed:author | pubmed-author:Melo-PiresMM | lld:pubmed |
| pubmed-article:9222976 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9222976 | pubmed:volume | 34 | lld:pubmed |
| pubmed-article:9222976 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9222976 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9222976 | pubmed:pagination | 607-9 | lld:pubmed |
| pubmed-article:9222976 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:9222976 | pubmed:meshHeading | pubmed-meshheading:9222976-... | lld:pubmed |
| pubmed-article:9222976 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9222976 | pubmed:articleTitle | The mitochondrial A3243G mutation presenting as severe cardiomyopathy. | lld:pubmed |
| pubmed-article:9222976 | pubmed:affiliation | Department of Clinical Biology, Instituto de Genética Médica, Porto, Portugal. | lld:pubmed |
| pubmed-article:9222976 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9222976 | pubmed:publicationType | Case Reports | lld:pubmed |
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