The analysis of protein expression in skin biopsies comparing all data from CMT1A patients to the controls provided significant differences in mitochondrial proteins of the OXPHOS system (Table 1) which included representative markers of the electron transport chain (NDUFS3 of Complex I, SDH-B of Complex II, Core 2 of Complex III and COXII of Complex IV) and oxidative phosphorylation (β-F1-ATPase and IF1). The gene discussed is NDUFS3; the disease is Charcot-Marie-Tooth disease type 1A.