A novel sporadic mutation G14739A of the mitochondrial tRNA^Glu in a girl with exercise intolerance

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• 作者：Johannes A. Mayr ; Ali-Reza Moslemi ; Holger Fö ; rster ; Adrian Kamper ; Carmen Idriceanu ; Wolfgang Muss ; Michael Huemer ; Anders Oldfors ; Wolfgang Sperl
• 关键词：Mitochondria ; mtDNA ; tRNA ; Mitochondrial myopathy
• 刊名：Neuromuscular Disorders
• 出版年：2006
• 期刊代码：203_09608966
• 类别：med
• 出版时间：December 2006
• 卷：16
• 期：12
• 页码：874-877
• 文件大小：380 K

摘要

We describe a 7-year-old girl who presented with loss of appetite, weakness and excercise intolerance. Enzyme investigation of the respiratory chain in muscle tissue revealed a combined complex I, III and IV deficiency. A novel heteroplasmic G → A exchange at nucleotide position 14739 was found in the MTTE gene of the tRNA glutamic acid. The mutation load in muscle was 72%, urine sediment 38%, blood 31%and fibroblasts 29%and it correlated with COX-negative fibres. Our patient presented with a predominantly myopathic phenotype. The G14739A mutation is the third reported in the mitochondrial tRNA glutamic acid gene, and it occurred in a sporadic case.