MAMLD1 and centronuclear myopathy: Mastermind-like domain-containing 1 gene (MAMLD1), also known as chromosome X open reading frame 6 (CXorf6) or F18 (online Mendelian inheritance in man (OMIM)# 300120), was first reported in two cases of myotubular myopathy and male hypogenitalism (6, 7).