期刊论文详细信息
FEBS Letters | |
Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNALeu(UUR)] | |
Paetzke-Brunner, I.2  Müller-Höcker, J.1  Obermaier-Kusser, B.2  Enter, C.2  Ruitenbeek, W.4  Gerbitz, K.-D.2  Zierz, S.3  | |
[1] Pathologisches Institut der Universität München, München, Germany;Institute für Klinische Chemie und Diabetesforschung, Städt. Krankenhaus München-Schwabing, München, Germany;Neurologische Klinik der Universität Bonn, Bonn, Germany;Department of Pediatrics, University of Nijmegen, Nijmegen, The Netherlands | |
关键词: Myopathy; Encephalopathy; MELAS; Mitochondrial DNA mutation; Respiratory chain; bp; base pairs; CPEO; chronic progressive external opthalmoplegia; MELAS; mitochondrial myopathy; encephalopathy; lactic acidosis and stroke-like episodes; MERRF; myoclonic epilepsy with ragged red fibers; mt; mitochondrial; | |
DOI : 10.1016/0014-5793(91)80942-V | |
学科分类:生物化学/生物物理 | |
来源: John Wiley & Sons Ltd. | |
【 摘 要 】
A heteroplasmic point mutation (transition A to G at position 3243 in the mitochondrial tRNALeu(UUR) gene is indicative for myo-encephalopathy with lactic acidosis and stroke-like episodes (MELAS). Decreased respiratory chain complex activities measured in different tissues from four patients with MELAS syndrome do not correlate with the proportion of mutated mitochondrial genome.
【 授权许可】
Unknown
【 预 览 】
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