Ontology highlight
ABSTRACT:
SUBMITTER: Baric I
PROVIDER: S-EPMC3722682 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
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]