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Titolo:
THE T-C-(8356) MITOCHONDRIAL-DNA MUTATION IN A JAPANESE FAMILY
Autore:
SANO M; OZAWA M; SHIOTA S; MOMOSE Y; UCHIGATA M; GOTO Y;
Indirizzi:
SHOWA GEN HOSP,DEPT NEUROL,2-450 TENJIN KODAIRA TOKYO 187 JAPAN NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,DIV ULTRASTRUCT RES KODAIRA TOKYO 187 JAPAN
Titolo Testata:
Journal of neurology
fascicolo: 6, volume: 243, anno: 1996,
pagine: 441 - 444
SICI:
0340-5354(1996)243:6<441:TTMMIA>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
RAGGED-RED FIBERS; STROKE-LIKE EPISODES; MYOCLONIC EPILEPSY; LACTIC-ACIDOSIS; TRANSFER RNALYS; MYOPATHY; MERRF; ENCEPHALOPATHY; MTDNA;
Keywords:
MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF); MIGRAINE; TRANSFER RNA GENE; MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE-LIKE EPISODES (MELAS); MERRF/MELAS OVERLAP SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
M. Sano et al., "THE T-C-(8356) MITOCHONDRIAL-DNA MUTATION IN A JAPANESE FAMILY", Journal of neurology, 243(6), 1996, pp. 441-444

Abstract

A rare point mutation at nucleotide position 8356 in the transfer RNAgene in mitochondrial DNA was found in a Japanese family. Our probandhad migraine and dementia associated with lactic acidosis in additionto myoclonic epilepsy with ataxia and ragged-red fibres in a muscle biopsy specimen consistent with the clinical characteristics of myoclonic epilepsy with ragged-red fibres (MERRF). His mother, who had the same point mutation, also had migraine but without myoclonus or ataxia. His aunt, who had the same point mutation and migraine, developed diabetes mellitus, encephalomyopathy and several strokelike episodes associated with lactic acidosis (MELAS). This is the third family with the rare mutation seen in American and Italian families. The mutation may not be specific to Caucasians, and is probably closely related to the MERRF/MELAS overlap syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/07/20 alle ore 05:52:58