Article
A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease.
European journal of neurology - 1 Oct 2020
Citrigno L, Zoccolella S, Lastella P, Simone I L, Muglia M
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in the periaxin (PRX) gene cause CMT4F with an autosomal recessive early-onset demyelinating neuropathy and are extremely rare in a non-Romani white population. METHODS: We report on a 66-year-old Italian man presenting with slowly progressive and late-onset demyelinating CMT. The...
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