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Article

Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.

International journal of molecular sciences - 29 Jan 2024

Gemignani Franco, Percesepe Antonio, Gualandi Francesca, Allegri Isabella, Bellanova Maria Federica, Nuredini Andi, Saccani Elena, Ambrosini Enrico, Barili Valeria, Uliana Vera

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) rarely presents with painful symptoms, which mainly occur in association with myelin protein zero (MPZ) gene mutations. We aimed to further characterize the features of painful neuropathic phenotypes in MPZ-related CMT. We report on a 58-year-old woman with a longstanding history of intermittent migrant pain and dysesthesias. Examination showed minimal clinical signs of...

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Identifiers

PMID: 38338934
DOI: 10.3390/ijms25031654
PMCID: PMC10855578

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