Several forms of CNM have been described in humans including the X-linked form (XLCNM, OMIM#310400), which exhibits the most severe phenotype and affects newborns, due to mutations in myotubularin (MTM1), a phosphoinositide phosphatase (Laporte et al, 1996), the autosomal dominant form (ADCNM, OMIM#160150) due to mutations in dynamin 2 (DNM2), a large GTPase (Bitoun et al, 2005), and an autosomal recessive form (ARCNM, OMIM#255200) due to mutations in AMPH2/BIN1 (Nicot et al, 2007). The gene discussed is MTM1; the disease is autosomal recessive centronuclear myopathy.