Associated Papers
Whole-exome sequencing identifies novel truncating ALPK3 variants in a compound heterozygous state associated with pediatric hypertrophic cardiomyopathy and phenotypic heterogeneity.
Wang Y et al.
Gene, 2025
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants
A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report.
Li T et al.
Frontiers in Cardiovascular Medicine, 2023
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.
Jorholt J et al.
Genes, 2020
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
Jaouadi H et al.
Journal of Human Genetics, 2018
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.
Çağlayan AO et al.
Cold Spring Harbor Molecular Case Studies, 2017
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.
Phelan DG et al.
European Heart Journal, 2016
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
Almomani R et al.
Journal of the American College of Cardiology, 2016
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