Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

doi:10.1136/jnnp-2024-333842

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Article

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Journal of neurology, neurosurgery, and psychiatry - 16 Dec 2024

Bertini Alessandro, Gentile Luca, Cavallaro Tiziana, Tozza Stefano, Saveri Paola, Russo Massimo, Massucco Sara, Falzone Yuri Matteo, Bellone Emilia, Taioli Federica, Geroldi Alessandro, Occhipinti Giuseppe, Ferrarini Moreno, Cavalca Eleonora, Crivellari Luca, Mandich Paola, Balistreri Francesca, Magri Stefania, Taroni Franco, Previtali Stefano Carlo, Schenone Angelo, Grandis Marina, Manganelli Fiore, Fabrizi Gian Maria, Mazzeo Anna, Pareyson Davide, Pisciotta Chiara

Abstract excerpt

BACKGROUND: We aimed to investigate the clinical features of a large cohort of patients with myelin protein zero (MPZ)-related neuropathy, focusing on the five main mutation clusters across Italy. METHODS: We retrospectively gathered a minimal data set of clinical information in a series of patients with these frequent mutations recruited among Italian Charcot-Marie-Tooth (CMT) registry centres, including disease...

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PMID: 38839277
DOI: 10.1136/jnnp-2024-333842
PMCID: PMC11672051

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