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Titolo:
MITOCHONDRIAL ENCEPHALOMYOPATHY WITH 15915-MUTATION - CLINICAL REPORT
Autore:
SEKI A; NISHINO I; GOTO Y; MAEGAKI Y; KOEDA T;
Indirizzi:
TOTTORI UNIV,FAC MED,INST NEUROL SCI,DIV CHILD NEUROL,36-1 NISHI MACHI YONAGO TOTTORI 683 JAPAN NATL CTR NEUROL & PSYCHIAT,NATL INST NEUROSCI,DEPT ULTRASTRUCT RES KODAIRA TOKYO 187 JAPAN
Titolo Testata:
Pediatric neurology
fascicolo: 2, volume: 17, anno: 1997,
pagine: 161 - 164
SICI:
0887-8994(1997)17:2<161:MEW1-C>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
MYOCLONIC EPILEPSY; LACTIC-ACIDOSIS; MTDNA MUTATION; EPISODES MELAS; POINT MUTATION; RNALYS GENE; ENCEPHALOPATHY; DEFICIENCY; MYOPATHY; PATIENT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
A. Seki et al., "MITOCHONDRIAL ENCEPHALOMYOPATHY WITH 15915-MUTATION - CLINICAL REPORT", Pediatric neurology, 17(2), 1997, pp. 161-164

Abstract

A 16-year-old boy with mitochondrial encephalomyopathy had seizures, short stature, muscle weakness, progressive hearing loss, mental retardation, and myoclonus. His cranial computed tomography showed progressive calcification in the basal ganglia and cerebral atrophy. Muscle biopsy revealed many ragged-red fibers with variable cytochrome c oxidase activity and some strongly succinate dehydrogenase-reactive blood vessels, Sequence analysis of the entire mitochondrial DNA revealed a novel point mutation in the tRNA-Thr gene at nucleotide pair 15915, Serum lactate levels were decreased by high-dose coenzyme Q10 (CoQ10) therapy. The spectral power density, a parameter of background activity onelectroencephalography, was markedly improved after additional administration of idebenone, After initiation of combined CoQ10 and idebenone therapy, the clinical abnormalities did not progress for 16 months. (C) 1997 by Elsevier Science Inc. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/07/20 alle ore 13:37:32