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Titolo:
Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease
Autore:
Aguilera, I; Garcia-Lozano, JR; Munoz, A; Arenas, J; Campos, Y; Chinchon, I; Roldan, AN; Bautista, J;
Indirizzi:
Univ Sevilla, Hosp Virgen Rocio, Serv Inmunol, Seville 41013, Spain Univ Sevilla Seville Spain 41013 cio, Serv Inmunol, Seville 41013, Spain Univ Madrid, Hosp 12 Octubre, Ctr Invest, Madrid 3, Spain Univ Madrid Madrid Spain 3 Hosp 12 Octubre, Ctr Invest, Madrid 3, Spain Univ Sevilla, Hosp Virgen Rocio, Serv Anat Patol, Seville 41013, Spain Univ Sevilla Seville Spain 41013 , Serv Anat Patol, Seville 41013, Spain Univ Sevilla, Hosp Virgen Rocio, Serv Neurol, Seville 41013, Spain Univ Sevilla Seville Spain 41013 ocio, Serv Neurol, Seville 41013, Spain
Titolo Testata:
JOURNAL OF THE NEUROLOGICAL SCIENCES
fascicolo: 1-2, volume: 192, anno: 2001,
pagine: 81 - 84
SICI:
0022-510X(20011115)192:1-2<81:MDPMIT>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY OPTIC NEUROPATHY; PHOSPHORYLASE-DEFICIENCY; OXIDATIVE-METABOLISM; SEQUENCE;
Keywords:
mitochondria; CIO gene; complex I deficiency; McArdle's disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Aguilera, I Univ Sevilla, Hosp Virgen Rocio, Serv Inmunol, Avda Manuel Siurot S-N, Seville 41013, Spain Univ Sevilla Avda Manuel Siurot S-N Seville Spain 41013 Spain
Citazione:
I. Aguilera et al., "Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease", J NEUR SCI, 192(1-2), 2001, pp. 81-84

Abstract

We studied a 57-year-old female patient with clinical and biochemical evidences of McArdle's disease. Her muscle biopsy also revealed signs of mitochondrial proliferation, scattered RRF, and a deficit in complex I of the respiratory chain. Molecular genetic analysis showed that the patient was heterozygous for the most common mutation at codon 49 in the myophosphorylase gene. Mitochondrial DNA analysis of muscle tissue revealed an additional G-to-A transition at nucleotide position 7444 in the cytochrome c oxidase subunit I (Col) gene. (C) 2001 Elsevier Science B.V. All rights reserved.

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Documento generato il 29/03/20 alle ore 08:49:37