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Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.


ABSTRACT: We report a novel pathogenic mutation of the mitochondrial transfer RNA (tRNA) gene for tryptophan in a patient with isolated myopathy and persistently elevated creatine kinase. Muscle studies revealed ragged red fibres and decreased activity of respiratory chain complex I and cytochrome c oxidase (COX). Sequencing of the 22 mitochondrial tRNA genes revealed a mutation m.5522G>A, which alters a conserved base pairing in the D-stem of the tRNA for tryptophan. The mutation was heteroplasmic with a mutational load between 88 and 99% in COX-negative fibres. This case contributes to the genetic heterogeneity of mitochondrial diseases caused by mutations in mitochondrial tRNA genes.

SUBMITTER: Baric I 

PROVIDER: S-EPMC3722682 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.

Barić Ivo I   Fumić Ksenija K   Petković Ramadža Danijela D   Sperl Wolfgang W   Zimmermann Franz A FA   Muačević-Katanec Diana D   Mitrović Zoran Z   Pažanin Leo L   Cvitanović Šojat Ljerka L   Kekez Tihomir T   Reiner Zeljko Z   Mayr Johannes A JA  

European journal of human genetics : EJHG 20121212 8


We report a novel pathogenic mutation of the mitochondrial transfer RNA (tRNA) gene for tryptophan in a patient with isolated myopathy and persistently elevated creatine kinase. Muscle studies revealed ragged red fibres and decreased activity of respiratory chain complex I and cytochrome c oxidase (COX). Sequencing of the 22 mitochondrial tRNA genes revealed a mutation m.5522G>A, which alters a conserved base pairing in the D-stem of the tRNA for tryptophan. The mutation was heteroplasmic with a  ...[more]

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