A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature

Introduction: Charcot–Marie–Tooth (CMT) is a group of inherited peripheral neuropathies characterized by wide genotypic and phenotypic variability. The onset is typically in childhood, and the most frequent clinical manifestations are predominantly distal muscle weakness, hypoesthesia, foot deformit...

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Hauptverfasser:	Margherita Baga, Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2023-05-01
Schriftenreihe:	Children
Schlagworte:	Charcot–Marie–Tooth demyelinating PMP2 gene anticipation
Online-Zugang:	https://www.mdpi.com/2227-9067/10/5/901
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