Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation

IntroductionCharcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. MethodsWe present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on clinical presentation, electrodiagnostic analyses, and our findings in the context of previously described cases. ResultsThe Gly112Ser mutation causing CMT1C is a mild form of CMT, as patients walked on time, had less weakness than those with Charcot-Marie-Tooth disease type 1A (CMT1A), had a CMT neuropathy score (CMTNS) indicative of mild disease, and had faster ulnar and median motor nerve conduction velocities compared to those with CMT1A. DiscussionThe G112S mutation in LITAF seems to be clinically indistinguishable from a mild presentation of CMT1A. Muscle Nerve56: 1092-1095, 2017