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Article

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Acta ophthalmologica - 1 May 2013

Liskova Petra, Ulmanova Olga, Tesina Petr, Melsova Hana, Diblik Pavel, Hansikova Hana, Tesarova Marketa, Votruba Marcela

Abstract excerpt

PURPOSE: To identify the underlying molecular genetic cause in a Czech family with optic atrophy, deafness, ptosis, ophthalmoplegia, polyneuropathy and ataxia transmitted as an autosomal dominant trait. METHODS: Ophthalmological and neurological examination followed by molecular genetic analyses. RESULTS: Seven family members were clinically affected. There was a variable but progressive visual, hearing and...

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Source

Identifiers

PMID: 23387428
DOI: 10.1111/aos.12038

Genes

OPA1

Variants

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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