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Titolo:
Genetic diseases of the mitochondrial DNA.
Autore:
Solano, A; Playan, A; Lopez-Perez, MJ; Montoya, J;
Indirizzi:
Univ Zaragoza, Dept Bioquim & Biol Mol & Celular, Zaragoza, Spain Univ Zaragoza Zaragoza Spain quim & Biol Mol & Celular, Zaragoza, Spain
Titolo Testata:
SALUD PUBLICA DE MEXICO
fascicolo: 2, volume: 43, anno: 2001,
pagine: 151 - 161
SICI:
0036-3634(200103/04)43:2<151:GDOTMD>2.0.ZU;2-U
Fonte:
ISI
Lingua:
SPA
Soggetto:
HEREDITARY OPTIC NEUROPATHY; CYTOCHROME-C-OXIDASE; MATERNALLY INHERITED CARDIOMYOPATHY; KEARNS-SAYRE SYNDROME; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; BILATERAL STRIATAL NECROSIS; POINT MUTATION; LACTIC-ACIDOSIS; EPISODES MELAS; COMPLEX-I;
Keywords:
DNA, mitochondrial; mitochondrial diseases; Spain;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Social & Behavioral Sciences
Citazioni:
79
Recensione:
Indirizzi per estratti:
Indirizzo: Solano, A Univ Zaragoza, Dept Bioquim & Biol Mol & Celular, Zaragoza, Spain Univ Zaragoza Zaragoza Spain l Mol & Celular, Zaragoza, Spain
Citazione:
A. Solano et al., "Genetic diseases of the mitochondrial DNA.", SALUD PUB M, 43(2), 2001, pp. 151-161

Abstract

Mitochondrial diseases are a group of disorders produced by defects in theoxidative phosphorylation system (Oxphos system), the final pathway of themitochondrial energetic metabolism, resulting in a deficiency of th e biosynthesis of ATP. Part of the polypeptide subunits involved in the Oxphos system are codified by the mitochondrial DNA. In the last years, mutations inthis genetic system have been described and associated to well defined clinical syndromes. The clinical features of these disorders are very heterogeneous affecting, in most cases, to different organs and tissues and their correct diagnosis require precise clinical, morphological, biochemical and genetic data. The peculiar genetic characteristics of the mitochondrial DNA (maternal inheritance, polyplasmia and mitotic segregation) give to these disorders very distinctive properties. The English version of this paper is available at: http://www.insp.mx/salud/index.html.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 15:54:44