PIK3C2A and scoliosis: The patient in this case report presents typical clinical characteristics of CMD1A, such as peripheral hypotonia and muscle weakness, cerebral white matter abnormalities, elevated CPK levels during the first years of life (and their subsequent decline), joint contractures, severe scoliosis, hip dysplasia, elongated myopathic facies, feeding difficulty, and clubfoot, just as reported in the literature (Beytía et al., 2014).