MAMLD1 and centronuclear myopathy: Mastermind-like domain-containing 1 gene (MAMLD1), also known as chromosome X open reading frame 6 (CXorf6) or F18 (OMIM# 300120), was first identified in two patients with myotubular myopathy and male hypogenitalism, who were discovered to possess a deletion on chromosome Xq28 [11, 12].