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Article

The Involvement of ALPK3 in Hypertrophic Cardiomyopathy in East Asia

15 Jun 2022

Abstract excerpt

Objective ALPK3 is associated with a recessive form of pediatric cardiomyopathy accompanied by musculoskeletal and craniofacial abnormalities. Heterozygous truncating variants in this gene (ALPK3tv) have recently been confirmed as a cause of autosomal dominant hypertrophic cardiomyopathy (HCM). Whether ALPK3 is also implicated in HCM in East Asia and the effect of missense variants in ALPK3 on HCM remains...

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PMID: 35783621
DOI: 10.3389/fmed.2022.915649

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