A novel sporadic mutation G14739A of the mitochondrial tRNA Glu in a girl with exercise intolerance

We describe a 7-year-old girl who presented with loss of appetite, weakness and excercise intolerance. Enzyme investigation of the respiratory chain in muscle tissue revealed a combined complex I, III and IV deficiency. A novel heteroplasmic G → A exchange at nucleotide position 14739 was found in t...

Full description

Saved in:
Bibliographic Details
Published inNeuromuscular disorders : NMD Vol. 16; no. 12; pp. 874 - 877
Main Authors Mayr, Johannes A., Moslemi, Ali-Reza, Förster, Holger, Kamper, Adrian, Idriceanu, Carmen, Muss, Wolfgang, Huemer, Michael, Oldfors, Anders, Sperl, Wolfgang
Format Journal Article
LanguageEnglish
Published Elsevier B.V 2006
Subjects
Mitochondria
Mitochondrial myopathy
mtDNA
tRNA
Mitochondria
tRNA
mtDNA
Mitochondrial myopathy
Online AccessGet full text

Cover

More Information
Summary:We describe a 7-year-old girl who presented with loss of appetite, weakness and excercise intolerance. Enzyme investigation of the respiratory chain in muscle tissue revealed a combined complex I, III and IV deficiency. A novel heteroplasmic G → A exchange at nucleotide position 14739 was found in the MTTE gene of the tRNA glutamic acid. The mutation load in muscle was 72%, urine sediment 38%, blood 31% and fibroblasts 29% and it correlated with COX-negative fibres. Our patient presented with a predominantly myopathic phenotype. The G14739A mutation is the third reported in the mitochondrial tRNA glutamic acid gene, and it occurred in a sporadic case.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2006.08.010