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Titolo:
An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu) ((UUR))gene presenting cardiac dysfunction as the main symptom
Autore:
Higashikata, T; Koyama, J; Shimada, H; Yazaki, M; Owa, M; Ikeda, S;
Indirizzi:
Shinshu Univ, Sch Med, Dept Med 3, Matsumoto, Nagano 3908621, Japan Shinshu Univ Matsumoto Nagano Japan 3908621 sumoto, Nagano 3908621, Japan
Titolo Testata:
INTERNAL MEDICINE
fascicolo: 5, volume: 40, anno: 2001,
pagine: 405 - 408
SICI:
0918-2918(200105)40:5<405:A8MDPW>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSFER RNALEU(UUR) GENE; STROKE-LIKE EPISODES; LACTIC-ACIDOSIS; POINT MUTATION; MELAS; DNA; CYTOPATHY; MYOPATHY;
Keywords:
mitochondrial DNA; metabolic disorder; cardiomyopathy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
13
Recensione:
Indirizzi per estratti:
Indirizzo: Ikeda, S Shinshu Univ, Sch Med, Dept Med 3, 3-1-1 Asahi, Matsumoto, Nagano3908621,Japan Shinshu Univ 3-1-1 Asahi Matsumoto Nagano Japan 3908621 621,Japan
Citazione:
T. Higashikata et al., "An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu) ((UUR))gene presenting cardiac dysfunction as the main symptom", INTERN MED, 40(5), 2001, pp. 405-408

Abstract

MELAS is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, but cardiac involvement also frequently occurs. An 80-year-old female patient had been suffering from insulin-dependent diabetes mellitus and neurosensory hearing loss. At the age of 79 she suffered metabolic acidosis with persistent drowsiness and was subsequently found to have severe cardiac dysfunction, Muscle biopsy disclosed the presence of abnormal mitochondria, and the MELAS gene mutation (A3243G of the tRNA(Leu(UUR))) was demonstrated. It is noteworthy that this mitochondrial disease patient has survived until a great age, which shows the wide clinicalspectrum of MELAS, especially in the age of onset.

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Documento generato il 11/07/20 alle ore 16:10:30