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A patient with two mitochondrial DNA mutations causing PEO and LHON.

Journal article
Authors Atle Melberg
Ali-Reza Moslemi
Oscar Palm
Raili Raininko
Erik Stålberg
Anders Oldfors
Published in European journal of medical genetics
Volume 52
Issue 1
Pages 47-8
ISSN 1878-0849
Publication year 2009
Published at Institute of Biomedicine, Department of Pathology
Pages 47-8
Language en
Links dx.doi.org/10.1016/j.ejmg.2008.10.0...
Keywords DNA, Mitochondrial, genetics, Electron Transport Complex IV, genetics, Humans, Male, Mitochondrial Myopathies, genetics, Mutation, Optic Atrophy, Hereditary, Leber, genetics, Point Mutation, Sequence Deletion, Young Adult
Subject categories Cell and Molecular Biology

Abstract

We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heteroplasmic for the mtDNA 5 kb "common" deletion mutation. In blood only the homoplasmic LHON mutation was identified. The occurrence of two pathogenic mtDNA mutations is exceedingly rare. The clinical findings in this patient indicate that the combination of the two mtDNA mutations resulted in the expected combined phenotype since the mtDNA deletion mutation accounted for the PEO and the mtDNA G11778A point mutation for the optic atrophy.

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