Article
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clinical genetics - 1 Jun 2024
Ader Flavie, Jedraszak Guillaume, Janin Alexandre, Billon Clarisse, Buisson Nathalie Roux, Bloch Adrien, Bensalah Meriem, De Sandre-Giovannoli Anachiara, Goudal Adeline, Marsili Luisa, Cazeneuve Cécile, Charron Philippe, Millat Gilles, Richard Pascale
Abstract excerpt
Biallelic disease-causing variants in the ALPK3 gene were first identified in children presenting with a severe cardiomyopathy. More recently, it was shown that carriers of heterozygous ALPK3 null variants are at risk of developing hypertrophic cardiomyopathy (HCM) with an adult onset. Since the number of reported ALPK3 patients is small, the mutational spectrum and clinical data are not fully described. In this...
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