Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

Next-generation sequencing was performed for 2 families with an undiagnosed neurologic disease. Analysis revealed X-linked mutations in the proteolipid protein 1 (PLP1) gene, which is associated with X-linked Pelizaeus-Merzbacher disease and Spastic Paraplegia type 2. In family A, the novel PLP1 mis...

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Detalles Bibliográficos
Autores principales: Margraf, Rebecca L., Durtschi, Jacob, Krock, Bryan, Newcomb, Tara M., Bonkowsky, Joshua L., Voelkerding, Karl V., Bayrak-Toydemir, Pinar, Lutz, Richard E., Swoboda, Kathryn J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056774/
https://www.ncbi.nlm.nih.gov/pubmed/30046645
http://dx.doi.org/10.1177/2329048X18789282

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