✦ LIBER ✦

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

✍ Scribed by P. F. Chinnery; M. A. Johnson; R. W. Taylor; R. N. Lightowlers; Prof. D. M. Turnbull

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 337 KB
Volume: 41
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410410319

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✦ Synopsis

Abstract

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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