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

• Príomhchruthaitheoirí: Margherita Baga (Údar), Susanna Rizzi (Údar), Carlotta Spagnoli (Údar), Daniele Frattini (Údar), Francesco Pisani (Údar), Carlo Fusco (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: MDPI AG, 2023-05-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

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...