In addition to the BIN1-related form, heterozygous missense variants in hJUMPY, a novel phosphoinositide phosphatase with functional similarities to myotubularin, were recently identified in two sporadic cases with features of centronuclear myopathy and an additional DNM2 mutation in one case [140]. The gene discussed is DNM2; the disease is autosomal dominant centronuclear myopathy.