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Titolo:
DEFECTS OF MITOCHONDRIAL PROTEINS AND PEDIATRIC HEART-DISEASE
Autore:
STRAUSS AW;
Indirizzi:
WASHINGTON UNIV,SCH MED,DEPT PEDIAT,BOX 8116,1 CHILDRENS PL ST LOUIS MO 63110
Titolo Testata:
Progress in pediatric cardiology
fascicolo: 1, volume: 6, anno: 1996,
pagine: 83 - 90
SICI:
1058-9813(1996)6:1<83:DOMPAP>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
CARNITINE PALMITOYLTRANSFERASE-II; COA DEHYDROGENASE-DEFICIENCY; CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE; TRIFUNCTIONAL PROTEIN; LACTIC-ACIDOSIS; MOLECULAR-BASIS; EPISODES MELAS; SUDDEN-DEATH; CARDIOMYOPATHY; GENE;
Keywords:
CARDIOMYOPATHY; MITOCHONDRIA; FATTY ACID BETA OXIDATION; CARNITINE; MYOCARDIAL ENERGETICS; MITOCHONDRIAL GENOME; MOLECULAR GENETICS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
50
Recensione:
Indirizzi per estratti:
Citazione:
A.W. Strauss, "DEFECTS OF MITOCHONDRIAL PROTEINS AND PEDIATRIC HEART-DISEASE", Progress in pediatric cardiology, 6(1), 1996, pp. 83-90

Abstract

Mitochondria produce the extraordinary amounts of energy required formyocardial function, mostly via beta-oxidation of fatty acids and oxidative phosphorylation. This review summarizes recent progress and current knowledge of mutations in the maternally-derived mitochondrial DNA and in nuclear genes encoding the enzymes of the beta-oxidation pathway which cause pediatric cardiac disease. Inheritance is maternal or autosomal recessive. Cardiomyopathy, dilated, hypertrophic, or restrictive, and sudden, unexplained death are common phenotypes of these genetic defects. Ventricular arrhythmias and conduction defects may also occur secondary to mitochondrial functional defects. Genetic abnormalities in mitochondrial proteins should be considered in the differential diagnosis of all pediatric cardiomyopathy.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/07/20 alle ore 18:41:45