PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations

PLP1 is located on the X-chromosome and encodes myelin proteolipid protein (PLP), the most abundant protein in central nervous system myelin. Generally, point mutations in PLP1 result in X-linked dysmyelinating disorders, such as Pelizaeus-Merzbacher disease (PMD) or spastic paraplegia type 2 (SPG2)...

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Detalles Bibliográficos
Autores principales: Cloake, Nancy C., Yan, Jun, Aminian, Atefeh, Pender, Michael P., Greer, Judith M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210135/
https://www.ncbi.nlm.nih.gov/pubmed/30314286
http://dx.doi.org/10.3390/jcm7100342

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210135/
https://www.ncbi.nlm.nih.gov/pubmed/30314286
http://dx.doi.org/10.3390/jcm7100342

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