“…To date, various small genetic studies and case series have been conducted on Korean patients diagnosed with hypoPP, hyperPP, MC, or PMC, all attributed to mono-allelic SCN4A mutations [ [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] ]. In this report, we describe the initial occurrence of myopathic features mimic with recessive classical CM in a Korean infant presenting with novel compound heterozygous SCN4A mutations.…”