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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Journal article
Authors Rita Horvath
John P Kemp
Helen A L Tuppen
Gavin Hudson
Anders Oldfors
Suely K N Marie
Ali-Reza Moslemi
Serenella Servidei
Elisabeth Holme
Sara Shanske
Gittan Kollberg
Parul Jayakar
Angela Pyle
Harold M Marks
Elke Holinski-Feder
Mena Scavina
Maggie C Walter
Jorida Coku
Andrea Günther-Scholz
Paul M Smith
Robert McFarland
Zofia M A Chrzanowska-Lightowlers
Robert N Lightowlers
Michio Hirano
Hanns Lochmüller
Robert W Taylor
Patrick F Chinnery
Mar Tulinius
Salvatore DiMauro
Published in Brain : a journal of neurology
Volume 132
Issue Pt 11
Pages 3165-74
ISSN 1460-2156
Publication year 2009
Published at Institute of Biomedicine, Department of Pathology
Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Institute of Clinical Sciences
Pages 3165-74
Language en
Keywords Base Sequence, Cytochrome-c Oxidase Deficiency, genetics, pathology, physiopathology, Diagnosis, Differential, Female, Genotype, Humans, Infant, Infant, Newborn, Male, Mitochondria, metabolism, Mitochondrial Encephalomyopathies, genetics, pathology, physiopathology, Molecular Biology, Molecular Sequence Data, Muscle, Skeletal, pathology, Nucleic Acid Conformation, Pedigree, Phenotype, Point Mutation, Prognosis
Subject categories Cell and Molecular Biology


Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.

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