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Article

Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.

Journal of cardiovascular translational research - 1 Dec 2023

Poleg Tomer, Eskin-Schwartz Marina, Proskorovski-Ohayon Regina, Aminov Ilana, Dolgin Vadim, Agam Nadav, Jean Matan, Safran Amit, Freund Ofek, Levitas Aviva, Konstantino Yuval, Birk Ohad S, Westreich Roi, Haim Moti

Abstract excerpt

Hypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase alpha-protein kinase 3 (ALPK3) plays an essential role in sarcomere organization and cardiomyocyte differentiation. ALPK3 coding mutations are causative of recessively inherited pediatric-onset DCM and HCM with variable expression of facial dysmorphism and skeletal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37973666
DOI: 10.1007/s12265-023-10461-y

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