Genetic skin diseases caused by mutations in keratin intermediate filaments

Charcot–marie–tooth disease with interme

Charcot–marie–tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene

✍ Isabel Banchs; Carlos Casasnovas; Jordi Montero; Victor Volpini; Juan Antonio Ma 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 511 KB

## Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (__MPZ__) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected c