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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
1997-9-18
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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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-1171391,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-1284550,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-1315123,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-1978914,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-1985462,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-2102678,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-2829705,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-6093682,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-7600089,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-7850969,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-7850981,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-8151079,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-8392410,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-8400859,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-8610496,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9222976-8803773
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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 |
Jul
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
34
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
607-9
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9222976-Acidosis, Lactic,
pubmed-meshheading:9222976-Cardiomyopathies,
pubmed-meshheading:9222976-Child,
pubmed-meshheading:9222976-DNA, Mitochondrial,
pubmed-meshheading:9222976-Humans,
pubmed-meshheading:9222976-MELAS Syndrome,
pubmed-meshheading:9222976-Male,
pubmed-meshheading:9222976-Muscles,
pubmed-meshheading:9222976-Pedigree,
pubmed-meshheading:9222976-Point Mutation,
pubmed-meshheading:9222976-RNA, Transfer, Leu
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pubmed:year |
1997
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pubmed:articleTitle |
The mitochondrial A3243G mutation presenting as severe cardiomyopathy.
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pubmed:affiliation |
Department of Clinical Biology, Instituto de Genética Médica, Porto, Portugal.
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pubmed:publicationType |
Journal Article,
Case Reports
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