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Ann Neurol. 1997 Mar;41(3):408-10.

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.

Author information

1
Department of Neurology, University of Newcastle upon Tyne, UK.

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.

PMID:
9066365
DOI:
10.1002/ana.410410319
[Indexed for MEDLINE]

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