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Titolo:
BILATERAL STRIATAL NECROSIS AND MELAS ASSOCIATED WITH A NEW T3308C MUTATION IN THE MITOCHONDRIAL ND1 GENE
Autore:
CAMPOS Y; MARTIN MA; RUBIO JC; DELOLMO MCG; CABELLO A; ARENAS J;
Indirizzi:
UNIV MADRID,HOSP 12 OCTUBRE,CTR INVEST,AVDA CORDOBA KM 5-4 E-28041 MADRID SPAIN UNIV MADRID,HOSP 12 OCTUBRE,CTR INVEST E-28041 MADRID SPAIN UNIV MADRID,HOSP 12 OCTUBRE,NEUROL SERV E-28041 MADRID SPAIN UNIV MADRID,HOSP 12 OCTUBRE,SERV NEUROPATOL E-28041 MADRID SPAIN
Titolo Testata:
Biochemical and biophysical research communications
fascicolo: 2, volume: 238, anno: 1997,
pagine: 323 - 325
SICI:
0006-291X(1997)238:2<323:BSNAMA>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
LACTIC-ACIDOSIS; EPISODES MELAS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
9
Recensione:
Indirizzi per estratti:
Citazione:
Y. Campos et al., "BILATERAL STRIATAL NECROSIS AND MELAS ASSOCIATED WITH A NEW T3308C MUTATION IN THE MITOCHONDRIAL ND1 GENE", Biochemical and biophysical research communications, 238(2), 1997, pp. 323-325

Abstract

We found a novel maternally inherited T3308C mutation in the mtDNA ND1 gene in a patient with bilateral striatal necrosis and stroke-like episodes. Muscle biopsy from the proband showed mitochondrial proliferation in blood vessels and normal respiratory chain activities, The mutation, which was not present in 100 normal controls or in 30 patients with mitochondrial disease, was heteroplasmic in both muscle and bloodof the proband and in blood from her asymptomatic mother, This mutation results in a Met --> Thr change at the highly conserved amino acid position 1, The T3308C mutation may alter the hydrophobicity and antigenicity of the N-terminal peptide of ND1. (C) 1997 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 17:41:53