PIK3C2A and Congenital muscular dystrophy type 1A: Congenital muscular dystrophy type 1A (CMD1A) is characterized by hypotonia and muscle weakness during the first months of life, delay in motor development, high levels of creatine phosphokinase (CPK), and alterations in the cerebral white matter (Liang et al., 2017; Smith et al., 2017).