X-linked myotubular myopathy (XLMTM) is a rare disease caused by mutations in the MTM1 (myotubularin 1) gene, resulting in the absence or dysfunction of myotubularin, a ubiquitously expressed enzyme that is required for normal development and function of skeletal muscle cells [1–3]. This evidence concerns the gene MTM1 and X-linked myotubular myopathy.