Author Archives: Jose Marques Lopes PhD

New Mutations Found in Korean Patients With CMT4C, Research Shows

A study in Korean patients found four previously unreported mutations causing Charcot–Marie–Tooth disease type 4C (CMT4C), which were associated with manifestations such as foot deformities, walking difficulties, and slowed nerve conduction. The research, “Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients,” appeared in…

#AANAM — Combined Gene Therapy/RNA Strategy May Correct Cellular Changes in CMT2A, Study Suggests

A combination of gene therapy and a strategy called RNA interference (RNAi) successfully repaired disease-related alterations in nerve cells derived from patients with Charcot-Marie-Tooth disease type 2A (CMT2A), according to a study. The study, “RNAi/gene therapy combined approach as therapeutic strategy for Charcot-Marie-Tooth 2A,” was presented…