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Titolo:
SPORADIC MERRF MELAS OVERLAP SYNDROME-ASSOCIATED WITH THE 3243-TRNA(LEU(UUR)) MUTATION OF MITOCHONDRIAL-DNA/
Autore:
CAMPOS Y; MARTIN MA; LORENZO G; APARICIO M; CABELLO A; ARENAS J;
Indirizzi:
HOSP 12 OCTUBRE,CTR INVEST,AVDA CORDOBA KM 54 E-28041 MADRID SPAIN HOSP 12 OCTUBRE,CTR INVEST E-28041 MADRID SPAIN HOSP RAMON Y CAJAL,DEPT PEDIAT E-28034 MADRID SPAIN
Titolo Testata:
Muscle & nerve
fascicolo: 2, volume: 19, anno: 1996,
pagine: 187 - 190
SICI:
0148-639X(1996)19:2<187:SMMOSW>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
RED FIBERS MERRF; TRANSFER RNALYS MUTATION; MYOCLONIC EPILEPSY; A->G(8344) MUTATION; LACTIC-ACIDOSIS; MTDNA MUTATION; EPISODES MELAS; ENCEPHALOMYOPATHIES;
Keywords:
MITOCHONDRIAL DNA; MITOCHONDRIAL MYOPATHY; MERRF; MELAS; MATERNAL INHERITANCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
Y. Campos et al., "SPORADIC MERRF MELAS OVERLAP SYNDROME-ASSOCIATED WITH THE 3243-TRNA(LEU(UUR)) MUTATION OF MITOCHONDRIAL-DNA/", Muscle & nerve, 19(2), 1996, pp. 187-190

Abstract

We studied a patient with a mitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Musclebiopsy showed ragged-red fibers (RRF). Some RRF were cytochrome c oxidase (COX)-negative while some others stained positive for COX. Musclebiochemistry revealed defects of complexes I and IV of the respiratory chain. Both muscle and blood mitochondrial DNA from the patient showed the presence of the mutation at nucleotide position 3243 in the tRNA(Leu(UUR)) gene and the absence of point mutations related to MERRF syndrome. The proportions of mutant mtDNA were 70% in muscle and 30% inblood. The mutation was absent in blood from all maternal relatives, in hair follicles from the mother, and in muscle from one sister of the proband. Therefore, there was no evidence of maternal inheritance. (C) 1996 John Wiley & Sons, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/07/20 alle ore 09:05:57