Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Maternally inherited hypertrophic cardiomyopathy: A manifestation of mitochondrial DNA mutations - Clinical course in two families
Autore:
Dipchand, AI; Tein, I; Robinson, B; Benson, LN;
Indirizzi:
Hosp Sick Children, Dept Pediat, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Clin Biochem, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada Univ Toronto, Inst Res, Fac Med, Toronto, ON M5G 1X8, Canada Univ TorontoToronto ON Canada M5G 1X8 c Med, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Dept Biochem, Toronto, ON M5G 1X8, Canada Hosp Sick Children Toronto ON Canada M5G 1X8 Toronto, ON M5G 1X8, Canada
Titolo Testata:
PEDIATRIC CARDIOLOGY
fascicolo: 1, volume: 22, anno: 2001,
pagine: 14 - 22
SICI:
0172-0643(200101/02)22:1<14:MIHCAM>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
FATAL INFANTILE CARDIOMYOPATHY; POINT MUTATION; MYOPATHY; DISORDER; GENE;
Keywords:
hypertrophic cardiomyopathy; mitochondrial tRNA point mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Dipchand, AI Hosp Sick Children, Dept Pediat, 555 Univ Ave, Toronto, ON M5G 1X8, Canada Hosp Sick Children 555 Univ Ave Toronto ON Canada M5G 1X8 ada
Citazione:
A.I. Dipchand et al., "Maternally inherited hypertrophic cardiomyopathy: A manifestation of mitochondrial DNA mutations - Clinical course in two families", PEDIAT CARD, 22(1), 2001, pp. 14-22

Abstract

In the past decade, maternally inherited disorders have been described manifesting as hypertrophic cardiomyopathy. These are primarily associated with defects in oxidative metabolism due to an alteration in mitochondrial DNA. Although the biochemistry and molecular biology is well-defined, there islittle information regarding clinical presentation and course. Reported manifestations can be broad and can include myopathy, encephalopathy, stroke-like episodes, hearing loss, cardiomyopathy, multiorgan dysfunction and sudden death. Predominant or exclusive involvement of the heart is rare. We report the clinical presentations, investigations, pathologic findings, and clinical course in two families with two mitochondrial tRNA defects with exclusive cardiac involvement and demonstrable clinical heterogeneity based onthe percentage of mutant tRNA.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 23:16:16