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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...
Autores principales: | Lee, Su Ji, Kim, Tae Yong, Hong, Seungbeen, Byun, Justin, Cho, Sung-Rae |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Society for Neurorehabilitation
2021
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Materias: | |
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 |
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