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Article

Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations.

Journal of medical genetics - 1 Mar 1998

Albin R L

Abstract excerpt

A patient with Fuch's corneal dystrophy, sensorineural hearing loss, diabetes, cardiac conduction defects, ataxia, and hyperreflexia is described. Analysis of lymphocyte mitochondrial DNA showed missense mutations usually associated with Leber's hereditary optic neuropathy. The occurrence of Fuch's dystrophy in this patient and the biology of corneal endothelial cells suggest that mitochondrial defects could be...

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Share to DNA, Mitochondrial
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Optic Atrophies, Hereditary

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Identifiers

PMID: 9541117
DOI: 10.1136/jmg.35.3.258
PMCID: PMC1051256

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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