]> 2026-07-31T09:41:21+00:00 WBR0368 0 en ''CMT'' gene Charcot–Marie–Tooth (CMT) disease is caused by mutations in one of several ''CMT'' genes involved in the structure and function of either the peripheral nerve axon or the myelin sheath. ''FXN'' gene Friedreich's ataxia (FRDA) is caused by ''FXN'' gene mutation that results in reduced expression of frataxin protein. DUX4 gene Facioscapulohumeral muscular dystrophy is caused by ''DUX4'' gene mutation. ''Dystrophin'' gene Duchenne muscular dystrophy (DMD) is caused by ''Dystrophin'' gene frameshift mutation. ''DYSF'' gene Distal muscular dystrophy is caused by a mutation in the ''DYSF''. The disease is characterized by relatively late-onset of symptoms (20-60 years of age), which include weakness and wasting of muscles of the hands, forearms, and lower legs. It is usually progressive but not life-threatening. Genetics A 20-year-old man presents to the neurology clinic for left foot weakness and gradual loss sensation in the both lower extremities. His symptoms have been progressive over the past 2 years. On physical examination, the physician notes significant pes cavus with left foot drop, lower extremity weakness and muscle wasting giving the legs an inverted champagne bottle appearance. The patient explains that several of his family members have had the same condition. A mutation in which of the following gene is likely to be responsible for this patient's condition? A Neurology 2020-10-28T00:19:16Z 2459150.5133796 WBR0368