Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report

Pelizaeus-Merzbacher disease (PMD) is a X-linked recessive disorder with dysmyelination in central nervous system caused by proteolipid protein 1 (PLP1) gene mutation. We report a case of PMD with PLP1 exon 1 duplication, previously misdiagnosed as cerebral palsy (CP). A 25-year-old male previously...

Descripción completa

Detalles Bibliográficos
Autores principales: Lee, Su Ji, Kim, Tae Yong, Hong, Seungbeen, Byun, Justin, Cho, Sung-Rae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Neurorehabilitation 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879495/
https://www.ncbi.nlm.nih.gov/pubmed/36743429
http://dx.doi.org/10.12786/bn.2021.14.e20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9879495/
https://www.ncbi.nlm.nih.gov/pubmed/36743429
http://dx.doi.org/10.12786/bn.2021.14.e20

Ejemplares similares