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Article

A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Sept 2005

Yamada Koki, Hunter David G, Andrews Caroline, Engle Elizabeth C

Abstract excerpt

OBJECTIVE: To determine whether congenital fibrosis of the extraocular muscles (CFEOM) with Marcus Gunn jaw-winking phenomenon (MG) can result from mutations in the KIF21A gene encoding a kinesin motor protein. METHODS: An individual with CFEOM1 (classic autosomal dominant CFEOM) and MG underwent a comprehensive ophthalmic examination. He and his healthy parents underwent screening for mutations in the KIF21A...

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Identifiers

PMID: 16157808
DOI: 10.1001/archopht.123.9.1254

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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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