Using whole genome sequencing in two of the cases and Sanger sequencing validation, variants were identified in the chloride channel gene CLCN1, which causes non-dystrophic congenital myotonia, and in the phosphodiesterase gene PDE4C, which is the major phosphodiesterase expressed in skeletal muscle and may play a role in decreasing muscle atrophy. Here, CLCN1 is linked to congenital myotonia.