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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Detalles Bibliográficos
Autores principales: Baga, Margherita, Rizzi, Susanna, Spagnoli, Carlotta, Frattini, Daniele, Pisani, Francesco, Fusco, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10217345/
https://www.ncbi.nlm.nih.gov/pubmed/37238449
http://dx.doi.org/10.3390/children10050901

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