French Scientists Report Two Novel Mutations Leading to Inherited Form of CMT
French researchers have identified two novel mutations occurring within the NEFH gene that led tof a hereditary form of Charcot-Marie-Tooth disease in two families. Their study, “Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death,” appeared in the journal Acta Neuropathologica Communications.