Novel MORC2 variants in Charcot–Marie–Tooth disease type 2Z: genetic and functional insights

Abstract excerpt

Background Charcot–Marie–Tooth disease type 2Z (CMT2Z) is an uncommon inherited condition characterized by autosomal dominant inheritance. It is marked by axonal neuropathy, leading to progressive muscle weakness, cramps, and sensory loss. MORC2 is one of the candidate pathogenic genes for CMT2Z. Methods Here, we enrolled two families affected by Charcot–Marie–Tooth (CMT) disease, with both families having...

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