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Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients

A common form of hereditary autosomal dominant demyelinating neuropathy known as Charcot-Marie-Tooth disease type 1A (CMT1A) is linked with duplication of the peripheral myelin protein 22 (PMP22) gene. Although studies from animal models have led to better understanding of the pathobiology of these...

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Detalles Bibliográficos
Autores principales: Lee, Sooyeon, Bazick, Hannah, Chittoor-Vinod, Vinita, Al Salihi, Mohammed Omar, Xia, Guangbin, Notterpek, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Investigative Pathology 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842032/
https://www.ncbi.nlm.nih.gov/pubmed/29246495
http://dx.doi.org/10.1016/j.ajpath.2017.10.021