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…s in NOTCH2NLC and LRP12 were recently identified as a cause of Charcot-Marie-Tooth disease (CMT) in 1.2%–10.6% of genetically undiagnosed patients in Chin…

… variants in SLC12A6 have recently been shown to cause dominant Charcot-Marie-Tooth disease (CMT). We aim to characterise the phenotype of patients with pr…

…utations in myelin protein zero (MPZ) gene are a known cause of Charcot-Marie-Tooth disease. We describe three relatives carrying a likely pathogenic MPZ v…

…rsus HC (all p<0.01). Periaxin was elevated in two out of eight CMT2A patients, two out of eight CMTX patients, and below detection l…

…Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause progressive …