Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel <i>RAB7A</i> Mutation and Inhibited EGFR Degradation

The rare autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) is associated with mutations in the <i>RAB7A</i> gene, involved in the late endocytic pathway. CMT2B is characterized by predominant sensory loss, ulceromutilating features, with lesser-to-absent motor deficits. We characterized clinica...

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Principais autores:	Paola Saveri, Maria De Luca, Veronica Nisi, Chiara Pisciotta, Roberta Romano, Giuseppe Piscosquito, Mary M. Reilly, James M. Polke, Tiziana Cavallaro, Gian Maria Fabrizi, Paola Fossa, Elena Cichero, Raffaella Lombardi, Giuseppe Lauria, Stefania Magri, Franco Taroni, Davide Pareyson, Cecilia Bucci
Formato:	Artigo
Idioma:	Inglês
Publicado:	MDPI AG 2020-04-01
Series:	Cells
Assuntos:	RAB7A Charcot–Marie–Tooth disease type 2B CMT2B peripheral sensory neuropathy NGF RAB7
Acceso en liña:	https://www.mdpi.com/2073-4409/9/4/1028
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