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Article

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

Neuromuscular disorders : NMD - 1 Dec 2006

Mayr Johannes A, Moslemi Ali-Reza, Förster Holger, Kamper Adrian, Idriceanu Carmen, Muss Wolfgang, Huemer Michael, Oldfors Anders, Sperl Wolfgang

Abstract excerpt

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...

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Identifiers

PMID: 17056256
DOI: 10.1016/j.nmd.2006.08.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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