Mutations in MTMR family proteins are associated with the human neuromuscular disorders X-linked myotubular myopathy (myotubularin and MTMR1) and type 4B Charcot-Marie-Tooth neuropathy (MTMR2 and MTMR13). Here, MTMR1 is linked to Charcot-Marie-Tooth disease, axonal, type 2FF.