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Article

KIF21A variant R954W in familial or sporadic cases of CFEOM1.

European journal of ophthalmology - 1 Jan 2000

Rudolph Guenther, Nentwich Michael, Hellebrand Heide, Pollack Katharina, Gordes Roswitha, Bau Viktoria, Kampik Anselm, Meindl Alfons

Abstract excerpt

PURPOSE: To demonstrate the clinical characteristics and determine mutations in the KIF21A gene, encoding a kinesin motor protein in patients with congenital fibrosis of the extraocular muscles (CFEOM) type 1. METHODS: Patients of five families with congenital fibrosis syndrome and two simplex patients with CFEOM underwent ophthalmologic examination and mutation analysis in the KIF21A gene. RESULTS: Clinical...

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Source

Identifiers

PMID: 19551685
DOI: 10.1177/112067210901900423

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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