Histological and histochemical data of the patients with positive WES showed presence of ragged red fibers in four cases (ADCK3 [P61], ACAD9 [P15, P23, P53]), “lipid storage myopathy” in four (PC [P71, P29], MTND5 [P35], PDHA1 [P66]) and SMA-like pattern in three (AIFM1 [P25], SCO2 [P54], RRM2B [P51]). The gene discussed is AIFM1; the disease is myopathy with abnormal lipid metabolism.