CMT2S Patient Features, New Gene Mutations ID’d in Chinese Study
Newly identified mutations in the IGHMBP2 gene have been associated with Charcot-Marie-Tooth disease type 2S (CMT2S), according to a study in China. Data also suggested that missense IGHMBP2 mutations localized in the functional domains of the resulting IGHMBP2 enzyme may be linked to more severe forms of the disease. Missense mutations…