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Titolo:
THE MITOCHONDRIAL A3243G MUTATION PRESENTING AS SEVERE CARDIOMYOPATHY
Autore:
VILARINHO L; SANTORELLI FM; ROSAS MJ; TAVARES C; MELOPIRES M; DIMAURO S;
Indirizzi:
INST MED GENET,DEPT CLIN BIOL,PR PEDRO NUNES 88 P-4050 OPORTO PORTUGAL COLUMBIA UNIV,COLL PHYS & SURG,DEPT NEUROL NEW YORK NY 00000 HOSP SENHORA OLIVEIRA,DEPT NEUROL GUIMARAES PORTUGAL HOSP SENHORA OLIVEIRA,DEPT PAEDIAT GUIMARAES PORTUGAL HOSP S ANTONIO,DIV NEUROPATHOL OPORTO PORTUGAL
Titolo Testata:
Journal of Medical Genetics
fascicolo: 7, volume: 34, anno: 1997,
pagine: 607 - 609
SICI:
0022-2593(1997)34:7<607:TMAMPA>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
LACTIC-ACIDOSIS; CARDIAC INVOLVEMENT; EPISODES MELAS; LARGE PEDIGREE; MYOPATHY; DNA; ENCEPHALOMYOPATHY; ENCEPHALOPATHY; DISEASES; GENE;
Keywords:
MITOCHONDRIAL DNA; A3243G; CARDIOMYOPATHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
L. Vilarinho et al., "THE MITOCHONDRIAL A3243G MUTATION PRESENTING AS SEVERE CARDIOMYOPATHY", Journal of Medical Genetics, 34(7), 1997, pp. 607-609

Abstract

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 RNA(Leu(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 oligosymptomatic mother and brother. This case reinforces the notion that cardiomyopathy. can be the presenting and predominant clinical expression ofthe A3243G mutation.

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Documento generato il 03/07/20 alle ore 01:46:35