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Article

Phenotypic spectrum of ALPK3‐related cardiomyopathy

10 May 2019

Abstract excerpt

Cardiomyopathies are clinically heterogeneous disorders and are the leading cause of cardiovascular morbidity and mortality. Different etiologies have a significant impact on prognosis. Recently, novel biallelic loss-of-function pathogenic variants in alpha-kinase 3 (ALPK3) were implicated in causing early-onset pediatric cardiomyopathy (cardiomyopathy, familial hypertrophic 27; OMIM 618052). To date, eight...

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PMID: 31074094
DOI: 10.1002/ajmg.a.61176

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