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Article

Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).

Journal of medical genetics - 1 Apr 1994

Pilz D, Quarrell O W, Jones E W

Abstract excerpt

DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations showed unilateral sensorineural hearing loss and the most common mitochondrial DNA mutation...

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Share to DNA, Mitochondrial
Share to Genes, Recessive
Share to Optic Atrophies, Hereditary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8071960
DOI: 10.1136/jmg.31.4.328
PMCID: PMC1049808

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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