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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2019
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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 |