Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

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

(2016) Dean G. Phelan et al.   EUROPEAN HEART JOURNAL

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

(2016) Rowida Almomani et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Pediatric Cardiomyopathy

(2016) Luisa Mestroni et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Lessons learned from the Pediatric Cardiomyopathy Registry (PCMR) Study Group

(2015) James D. Wilkinson et al.   CARDIOLOGY IN THE YOUNG

Molecular genetics and pathogenesis of cardiomyopathy

(2015) Akinori Kimura   JOURNAL OF HUMAN GENETICS

Pediatric Cardiomyopathy: Importance of Genetic and Metabolic Evaluation

(2012) Steven J. Kindel et al.   JOURNAL OF CARDIAC FAILURE

Cardiomyopathy in α-Kinase 3 (ALPK3)–Deficient Mice

(2011) I. Van Sligtenhorst et al.   VETERINARY PATHOLOGY