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Titolo:
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy
Autore:
Campos, Y; Gamez, J; Garcia, A; Andreu, AL; Rubio, JC; Martin, MA; del Hoyo, P; Navarro, C; Cervera, C; Garesse, R; Arenas, J;
Indirizzi:
Hosp 12 Octubre, Ctr Invest, E-28041 Madrid, Spain Hosp 12 Octubre Madrid Spain E-28041 , Ctr Invest, E-28041 Madrid, Spain Hosp Gen Valle Hebron, Serv Neurol, Barcelona, Spain Hosp Gen Valle Hebron Barcelona Spain on, Serv Neurol, Barcelona, Spain Hosp Gen Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona, Spain Hosp Gen Valle Hebron Barcelona Spain quim & Biol Mol, Barcelona, Spain Hosp Mixoeiro, Serv Anat Patol, Vigo, Spain Hosp Mixoeiro Vigo SpainHosp Mixoeiro, Serv Anat Patol, Vigo, Spain Univ Autonoma Madrid, Fac Med, Inst Invest Biomed Alberto Sols, Madrid, Spain Univ Autonoma Madrid Madrid Spain st Biomed Alberto Sols, Madrid, Spain
Titolo Testata:
NEUROMUSCULAR DISORDERS
fascicolo: 5, volume: 11, anno: 2001,
pagine: 477 - 480
SICI:
0960-8966(200107)11:5<477:ANMMIT>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL;
Keywords:
mitochondrial diseases; mitochondrial DNA; ocular myopathy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Arenas, J Hosp 12 Octubre, Ctr Invest, Avda Cordoba Km 5-4, E-28041 Madrid, Spain Hosp 12 Octubre Avda Cordoba Km 5-4 Madrid Spain E-28041 Spain
Citazione:
Y. Campos et al., "A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy", NEUROMUSC D, 11(5), 2001, pp. 477-480

Abstract

We studied a patient with ptosis, ophthalmoparesis, and exercise intolerance who showed in her muscle biopsy ragged-red fibers and combined defects of the complexes I and IV of the mitochondrial respiratory chain, Molecular analysis revealed a T3273C transition in the mitochondrial DNA tRNA(Leu(UUR)) gene. The mutation was heteroplasmic and very abundant in muscle from the proposita, less abundant in her other tissues studied, and still less abundant in blood from her maternal relatives. Single muscle fiber analysis showed significantly higher levels of mutant genomes in ragged-red fibers than in normal fibers. The T3273C mutation affects a strictly conserved base pair in the anticodon stem and was not found in controls, thus satisfying the accepted criteria for pathogenicity. (C) 2001 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/03/20 alle ore 22:19:43