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

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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Bibliographic Details
Main Authors: Nancy C. Cloake, Jun Yan, Atefeh Aminian, Michael P. Pender, Judith M. Greer
Format: Article
Language:English
Published: MDPI AG 2018-10-01
Series:Journal of Clinical Medicine
Subjects:
myelin proteolipid protein (PLP)
multiple sclerosis (MS)
point mutations
primary progressive MS
women
unfolded protein response
epitopes
Online Access:http://www.mdpi.com/2077-0383/7/10/342

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http://www.mdpi.com/2077-0383/7/10/342

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