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Ophthalmologic Manifestations Associated with Fukutin (FKTN) mutation subtypes in Korean Patients with Fukuyama Congenital Muscular Dystrophy: A Single-Center Retrospective Case Series

2025-08-01

Abstract excerpt

<title>Abstract</title> <p> Background To evaluate phenotypes in Korean patients with Fukuyama congenital muscular dystrophy (FCMD), with a particular focus on ocular manifestations associated with specific <italic>Fukutin</italic> ( <italic>FKTN</italic> ) mutation subtypes. Methods We conducted a retrospective review of nine patients with genetically confirmed FCMD who were followed at a single tertiary r...

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Literature Corpus work
e3a24e83-2ade-5e04-899c-7d0219233af7
DOI
10.21203/rs.3.rs-7124555/v1
Open publication

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Ophthalmologic Manifestations Associated with Fukutin (FKTN) mutation subtypes in Korean Patients with Fukuyama Congenital Muscular Dystrophy: A Single-Center Retrospective Case SeriesDOI 10.21203/rs.3.rs-7124555/v1
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