The pathogenic variants confirmed in the study were the ACTA1 gene in one patient, the EPG5 gene in three, the TBCK, TTN, DYNC1H1, STAC3, IGHMBP2, and KLHL40 genes in one patient each, and two genes causing non-neuromuscular diseases, the EXOSC8 in one patient with pontocerebellar hypoplasia type 1C and the EIF2B5 in one patient with vanishing white matter disease [24]. The gene discussed is KLHL40; the disease is pontocerebellar hypoplasia, type 1C.