A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement.
Constantinos PapadopoulosK KekouA AnastasakisM SvingouE MalfattiC MetayM ChrysanthouC PaschouD MilipoulosG K EfthimiadisS AdamopoulosG K PapadimasPublished in: Muscle & nerve (2021)