A patient with two mitochondrial DNA mutations causing PEO and LHON
2009 (English)In: European Journal of Medical Genetics, ISSN 1769-7212, E-ISSN 1878-0849, Vol. 52, no 1, 47-8 p.Article in journal (Refereed) Published
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.
Place, publisher, year, edition, pages
2009. Vol. 52, no 1, 47-8 p.
progressive external ophthalmoplegia (PEO), Leber hereditary optic neuropathy (LHON), point mutation, deletion, mitochondial DNA
Research subject Neurology
IdentifiersURN: urn:nbn:se:uu:diva-87883DOI: 10.1016/j.ejmg.2008.10.004ISI: 000263088400010PubMedID: 19015050OAI: oai:DiVA.org:uu-87883DiVA: diva2:133834