Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene (CROSBI ID 194771)
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Podaci o odgovornosti
Barić, Ivo ; Fumić, Ksenija ; Petković Ramadža, Danijela ; Sperl, W. ; Zimmermann, F.A. ; Muačević-Katanec, Diana ; Mitrović, Zoran ; Pažanin, Leo ; Cvitanović Šojat, Ljerka ; Kekez, Tihomir ; Reiner, Zeljko ; Mayr, J.A.
engleski
Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene
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.
mitochondrial myopathy; novel 5522G>A mutation
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o izdanju
Povezanost rada
Temeljne medicinske znanosti, Kliničke medicinske znanosti