The mastermind-like domain-containing 1(MAMLD1) gene, previously 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 found to harbour a deletion on chromosome Xq28 [4, 5]. Here, MAMLD1 is linked to centronuclear myopathy.