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Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene

Journal article
Authors Niklas Darin
Gittan Kollberg
Ali-Reza Moslemi
Mar Tulinius
Elisabeth Holme
Marita Andersson Grönlund
S Andersson
Anders Oldfors
Published in Neuromuscular disorders : NMD
Volume 16
Issue 8
Pages 504-6
ISSN 0960-8966
Publication year 2006
Published at Institute of Biomedicine, Department of Pathology
Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Institute of Clinical Sciences
Pages 504-6
Language en
Links dx.doi.org/10.1016/j.nmd.2006.05.01...
Keywords Adolescent, DNA Mutational Analysis, Electron Transport, genetics, Electron Transport Complex IV, metabolism, Exercise Tolerance, genetics, Female, Humans, Mitochondrial Myopathies, complications, genetics, physiopathology, Muscle Fibers, metabolism, pathology, Muscle Weakness, genetics, physiopathology, Mutation, genetics, RNA, genetics, RNA, Transfer, Phe, genetics, Retina, pathology, physiopathology, Retinal Artery, pathology, physiopathology, Retinal Diseases, complications, genetics, physiopathology
Subject categories Medical and Health Sciences

Abstract

We describe a second patient with the 583G>A mutation in the tRNA(phe) gene of mitochondrial DNA (mtDNA). This 17-year-old girl had a mitochondrial myopathy with exercise intolerance and an asymptomatic retinopathy. Muscle investigations showed occasional ragged red fibers, 30% cytochrome c oxidase (COX)-negative fibers, and reduced activities of complex I+IV in the respiratory chain. The mutation was heteroplasmic (79%) in muscle but undetectable in other tissues. Analysis of single muscle fibers revealed a significantly higher level of mutated mtDNA in COX-negative fibers. Our study indicates that the 583G>A mutation is pathogenic and expands the clinical spectrum of this mutation.

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