Article
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Cells - 21 Apr 2020
Saveri Paola, De Luca Maria, Nisi Veronica, Pisciotta Chiara, Romano Roberta, Piscosquito Giuseppe, Reilly Mary M, Polke James M, Cavallaro Tiziana, Fabrizi Gian Maria, Fossa Paola, Cichero Elena, Lombardi Raffaella, Lauria Giuseppe, Magri Stefania, Taroni Franco, Pareyson Davide, Bucci Cecilia
Abstract excerpt
The rare autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) is associated with mutations in the RAB7A gene, involved in the late endocytic pathway. CMT2B is characterized by predominant sensory loss, ulceromutilating features, with lesser-to-absent motor deficits. We characterized clinically and genetically a family harboring a novel pathogenic RAB7A variant and performed structural and functional analysis of...
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