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Titolo:
Mutations in mitochondrial DNA as a cause of exercise intolerance
Autore:
DiMauro, S; Andreu, AL;
Indirizzi:
Hosp Univ Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona 08035, Spain Hosp Univ Valle Hebron Barcelona Spain 08035 Mol, Barcelona 08035, Spain Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA Columbia Univ Coll Phys & Surg New York NY USA 10032 w York, NY 10032 USA
Titolo Testata:
ANNALS OF MEDICINE
fascicolo: 7, volume: 33, anno: 2001,
pagine: 472 - 476
SICI:
0785-3890(200110)33:7<472:MIMDAA>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYTOCHROME-B GENE; COMPLEX-III DEFICIENCY; NONSENSE MUTATION; MYOPATHY; PATIENT; MYOGLOBINURIA; MUSCLE;
Keywords:
exercise intolerance; mtDNA; mutation; respiratory chain;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Andreu, AL Hosp Univ Valle Hebron, Ctr Invest Bioquim & Biol Mol, P Vall Hebron 119-129, Barcelona 08035, Spain Hosp Univ Valle Hebron P Vall Hebron 119-129 Barcelona Spain 08035
Citazione:
S. DiMauro e A.L. Andreu, "Mutations in mitochondrial DNA as a cause of exercise intolerance", ANN MED, 33(7), 2001, pp. 472-476

Abstract

Exercise intolerance is a common presentation of metabolic myopathies, especially of congenital errors of glycogen and lipid metabolism. Recently, however, exercise intolerance has been associated with specific defects in protein-coding genes of mitochondrial DNA (mtDNA), including mutations in genes for complex I, complex III, and complex IV. Contrary to the general rules of mitochondrial genetics, all patients were sporadic cases and all mutations were restricted to skeletal muscle, suggesting that they were somatic mutations not affecting the germ line.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 07:36:21