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Titolo:
CLINICAL AND EEG FINDINGS IN 11 PATIENTS AFFECTED BY MITOCHONDRIAL ENCEPHALOMYOPATHY WITH MERRF-MELAS OVERLAP
Autore:
SERRA G; PICCINNU R; TONDI M; MUNTONI F; ZEVIANI M; MASTROPAOLO C;
Indirizzi:
UNIV SASSARI,INST CHILD NEUROPSYCHIAT,PIAZZA UNIV I-07100 SASSARI ITALY UNIV CAGLIARI,INST CHILD NEUROPSYCHIAT CAGLIARI ITALY CARLO BESTA NATL INST NEUROL MILAN ITALY
Titolo Testata:
Brain & development
fascicolo: 3, volume: 18, anno: 1996,
pagine: 185 - 191
SICI:
0387-7604(1996)18:3<185:CAEFI1>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
RAGGED-RED FIBERS; PROGRESSIVE MYOCLONUS EPILEPSIES; LACTIC-ACIDOSIS; POINT MUTATION; MTDNA MUTATION; EPISODES MELAS; KEARNS-SAYRE; RNALYS GENE; DNA; DISEASE;
Keywords:
FAMILIAL MERRF-MELAS OVERLAP; EEG STUDY; EEG PROGNOSTIC VALUE; MTDNA 8356 GENE MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
G. Serra et al., "CLINICAL AND EEG FINDINGS IN 11 PATIENTS AFFECTED BY MITOCHONDRIAL ENCEPHALOMYOPATHY WITH MERRF-MELAS OVERLAP", Brain & development, 18(3), 1996, pp. 185-191

Abstract

A study of mitochondrial DNA disease was carried out on 12 members belonging to three generations of a family from northern Sardinia. On the basis of the diagnostic criteria currently used in the classification of mitochondrial diseases a typical MERRF-MELAS overlap phenotype was seen in 11 patients with the mtDNA tRNA(lys) mutation at nucleotide position 8356. Clinical and instrumental investigations (EEG in particular) were made, Patients were divided into two groups: severely and mildly affected cases, The follow-up was reported. The aim of this study was to identify, through EEG, the early signs of the disease. The EEG findings recorded during the clinical evolution allowed us to recognize four degrees of cerebral involvement, and could also suggest the prognosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 02:31:47