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

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
DOI:	10.1016/j.nmd.2006.08.010
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01e6506a56ebd73dab871c1b93c923d https://doi.org/10.1016/j.nmd.2006.08.010
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....e01e6506a56ebd73dab871c1b93c923d
Autor:	Wolfgang Muss, Anders Oldfors, Johannes Mayr, Michael Huemer, Wolfgang Sperl, Holger Förster, Adrian Kamper, Carmen Idriceanu, Ali-Reza Moslemi
Rok vydání:	2006
Předmět:	Mitochondrial DNA Mitochondrial Diseases RNA Mitochondrial DNA Mutational Analysis Muscle Fibers Skeletal Respiratory chain Glutamic Acid Exercise intolerance Biology Mitochondrion medicine.disease_cause RNA Transfer Mitochondrial myopathy medicine Humans Genetic Predisposition to Disease Child Muscle Skeletal Genetics (clinical) Mutation Exercise Tolerance Muscle Weakness Brain Mitochondrial Myopathies Muscle weakness medicine.disease Molecular biology Heteroplasmy Neurology Pediatrics Perinatology and Child Health RNA Female Neurology (clinical) medicine.symptom
Zdroj:	Neuromuscular Disorders. 16:874-877
ISSN:	0960-8966
DOI:	10.1016/j.nmd.2006.08.010
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01e6506a56ebd73dab871c1b93c923d https://doi.org/10.1016/j.nmd.2006.08.010 Zobrazit plný text záznamu Full Text from ScienceDirect