PIK3C2A and myopathy: In 6 patients, muscular and metabolic tests such as plasmatic acylcarnitine, plasmatic aminoacidogram, urinary organic acids, and Next Generation Sequencing (NGS) panel for myopathies were performed because of the previous history of hyperCKemia/myositis or due to the extremely high CPK values (≥ 5.000 U/L) at peak.