A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

被引：44

作者：

Chinnery, PF

Johnson, MA

Taylor, RW

Lightowlers, RN

Turnbull, DM

机构：

[1] UNIV NEWCASTLE UPON TYNE,SCH MED,DEPT NEUROL,NEWCASTLE TYNE NE2 4HH,TYNE & WEAR,ENGLAND

[2] UNIV NEWCASTLE UPON TYNE,DEPT NEUROBIOL,NEWCASTLE TYNE NE2 4HH,TYNE & WEAR,ENGLAND

来源：

ANNALS OF NEUROLOGY | 1997年 / 41卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1002/ana.410410319

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a patient who presented with acute rhabdomyolysis and had 68% cytochrome c oxidase (COX)-deficient fibers in skeletal muscle. Further investigations confirmed a respiratory chain defect that was associated with a novel heteroplasmic point mutation in the phenylalanine tRNA gene of the mitochondrial genome (mtDNA). Analysis of single muscle fibers revealed a significantly greater level of mutant mtDNA in COX-negative fibers. This is the first case of a mitochondrial tRNA gene point mutation presenting with acute rhabdomyolysis and recurrent myoglobinuria.

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页码：408 / 410

页数：3

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