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A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation

Charcot-Marie-Tooth (CMT) disease is one of the most common primary hereditary neuropathies causing peripheral neuropathies. More than 60 different gene mutations are causing this disease. The PRX gene codes for Periaxin proteins that are expressed by Schwann cells and are necessary for the formatio...

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Detalles Bibliográficos
Autores principales: Datta, Sorabh, Kataria, Saurabh, Govindarajan, Raghav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6741374/
https://www.ncbi.nlm.nih.gov/pubmed/31523542
http://dx.doi.org/10.7759/cureus.5111