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). The gene discussed is MTMR2; the disease is Charcot-Marie-Tooth disease, axonal, type 2FF.