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

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Melberg A,Moslemi AR,Palm O,Raininko R,Stålberg E,Oldfors A

doi

10.1016/j.ejmg.2008.10.004

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

47-8

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(08)00135-3

journal_volume

52

pub_type

杂志文章

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