In both Chinese and Korean patients with dysferlinopathy, the mutations spanned the whole length of DYSF gene, although there was a trend that mutations clustered in the N-terminal region of DYSF gene (S4 Table), suggesting a possible common mutation hot spot in China and Korea[31, 32]. The gene discussed is DYSF; the disease is neuromuscular disease caused by qualitative or quantitative defects of dysferlin.