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Charcot-Marie-Tooth (CMT) neuropathies have an estimated prevalence of 1/2,500. Progressive wasting and weakness of foot and hand muscles is characteristic and many patients require walking aids or become wheelchair dependent. Treatment is currently supportive. No treatment alters the course of CMT progression. Genotype/phenotype correlation studies have shown that CMT is highly heterogeneous, with clinical variability, even among patients with identical pathogenic gene mutations. Conversely, involvement of different loci and distinct mutant genes may produce the same CMT phenotype. Heterogeneity also poses a diagnostic dilemma, as diverse mutations in over 30 genes have been identified in CMT and related neuropathies. A better understanding of the molecular pathology is therefore crucial to understand this heterogeneity and advance therapy for CMT. The article by Sabet et al.,1 in this issue of Neurology, contributes to this understanding by highlighting that intronic myelin protein zero (MPZ) gene mutations that disrupt normal splicing can result in CMT. These findings were made possible by …
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