Twenty individuals (8 men, 12 women, median age 53.4 years, IQR 23.3, range 29.5–79.4) were included: n = 14 with peripheral neuropathy (n = 11 with muscle weakness due to sciatic nerve injury, n = 1 anterior acute poliomyelitis, and n = 2 with Charcot-Marie-Tooth disease type Ia) and n = 6 with FSH. The gene discussed is BRD2; the disease is Charcot-Marie-Tooth disease type 1A.