While function-altering MTMR14 mutations have been found in sporadic cases of centronuclear myopathy, one of these patients also carried a disease-associated mutation in DNM2. A more severe phenotype was observed in this patient than patients with only the DNM2 mutation suggesting MTMR14 was not the primary cause of disease but did have a role in exacerbating the phenotype (Bitoun et al., 2005; Dowling et al., 2010). This evidence concerns the gene DNM2 and centronuclear myopathy.