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Titolo:
The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families
Autore:
Vilarinho, L; Santorelli, FM; Coelho, I; Rodrigues, L; Maia, M; Barata, I; Cabral, P; Dionisio, A; Costa, A; Guimaraes, A; DiMauro, S;
Indirizzi:
Inst Med Genet, Dept Biol Clin, P-4050 Porto, Portugal Inst Med Genet Porto Portugal P-4050 t Biol Clin, P-4050 Porto, Portugal Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY USA Columbia Univ New York NY USA Phys & Surg, Dept Neurol, New York, NY USA Hosp Senhora Oliveria, Dept Neurol, Guimaraes, Portugal Hosp Senhora Oliveria Guimaraes Portugal pt Neurol, Guimaraes, Portugal Hosp S Januario, Dept Neuropediat, Macau, Portugal Hosp S Januario MacauPortugal uario, Dept Neuropediat, Macau, Portugal Hosp D Estefania, Dept Neuropediat, Lisbon, Portugal Hosp D Estefania Lisbon Portugal ia, Dept Neuropediat, Lisbon, Portugal Cent Hosp Coimbra, Dept Neurol, Coimbra, Portugal Cent Hosp Coimbra Coimbra Portugal mbra, Dept Neurol, Coimbra, Portugal Hosp S Antonio, Div Neuropathol, Porto, Portugal Hosp S Antonio Porto Portugal Antonio, Div Neuropathol, Porto, Portugal Univ La Sapienza, Inst Malattie Nervose & Mentali, Rome, Italy Univ La Sapienza Rome Italy nst Malattie Nervose & Mentali, Rome, Italy Univ Pavia, UCADH, I-27100 Pavia, Italy Univ Pavia Pavia Italy I-27100Univ Pavia, UCADH, I-27100 Pavia, Italy Univ Pavia, Neurol Inst C Mondino, Mol Neurobiol Lab, I-27100 Pavia, ItalyUniv Pavia Pavia Italy I-27100 , Mol Neurobiol Lab, I-27100 Pavia, Italy Neuromed IRCCS, Pozzilli, IS, Italy Neuromed IRCCS Pozzilli IS ItalyNeuromed IRCCS, Pozzilli, IS, Italy
Titolo Testata:
JOURNAL OF THE NEUROLOGICAL SCIENCES
fascicolo: 2, volume: 163, anno: 1999,
pagine: 168 - 174
SICI:
0022-510X(19990301)163:2<168:TMDAMI>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
LEIGH-SYNDROME; LACTIC-ACIDOSIS; EPISODES MELAS; GENE; MYOPATHY; ENCEPHALOMYOPATHIES; ENCEPHALOPATHY; FEATURES;
Keywords:
mitochondrial DNA; A3243G; MELAS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Vilarinho, L Inst Med Genet, Dept Biol Clin, Pr Pedro Nunes,88, P-4050 Porto, Portugal Inst Med Genet Pr Pedro Nunes,88 Porto Portugal P-4050 tugal
Citazione:
L. Vilarinho et al., "The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families", J NEUR SCI, 163(2), 1999, pp. 168-174

Abstract

Out of 90 Portuguese patients with mitochondrial cytopathy, six harbored the A3243G mutation in the mtDNA tRNA(Leu(UUR)) gene ('MELAS mutation'). They had heterogeneous clinical features, including myopathy with stroke-like episodes, progressive external ophthalmoparesis, diabetes mellitus, and subacute encephalopathy. Histochemical and biochemical analyses of muscle biopsies showed abundant ragged-red fibers reacting positively with the cytochrome oxidase stain, and decreased respiratory chain enzyme activities. On average, the proportion of mutated mtDNA was 67% (20-88%) in tissues from patients and 21% (0-49%) in blood from 20 maternal relatives. The proportion of mutated mitochondrial genomes in muscle did not correlate with clinical presentation or duration of disease. This study, the first in Portuguese patients, confirms the frequent occurrence of the A3243G mutation in patients with mitochondrial diseases, and emphasises the usefulness of genetic testing in reaching a correct diagnosis. (C) 1999 Elsevier Science BN. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 18:41:50