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Article

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

European journal of medical genetics - 1 Jan 2000

Melberg Atle, Moslemi Ali-Reza, Palm Oscar, Raininko Raili, Stålberg Erik, Oldfors Anders

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Atrophy, Hereditary, Leber

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Source

Identifiers

PMID: 19015050
DOI: 10.1016/j.ejmg.2008.10.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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