Recently, two genetic testing centers from southern China analyzed the frequency of pathogenic variants of KLHL40 in their in-house database and proposed that the condition was not-so-rare in southern Chinese individuals, suggesting that the gene/variants should be included in a carrier screening panel and considered in prenatal diagnosis when congenital myopathies are suspected [8, 9]. The gene discussed is KLHL40; the disease is congenital myopathy with cores.