Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report

Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy with clinical symptoms and imaging manifestations similar to those of Pelizaeus-Merzbacher disease (PMD), an X-linked recessive hypomyelinating leukodystrophy. Typical manifestations of PMLD are nystagm...

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Detalles Bibliográficos
Autores principales: Fu, Hongling, Wang, Qiu, Liu, Hanmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7955759/
https://www.ncbi.nlm.nih.gov/pubmed/33727856
http://dx.doi.org/10.2147/IJGM.S293675

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7955759/
https://www.ncbi.nlm.nih.gov/pubmed/33727856
http://dx.doi.org/10.2147/IJGM.S293675

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