PLP1 gene mutations cause spastic paraplegia type 2 in three families

OBJECTIVE: Spastic paraplegia type 2 (SPG2) is an X‐linked recessive (XLR) form of hereditary spastic paraplegia (HSP) caused by mutations in proteolipid protein 1 (PLP1) gene. We described the clinical and genetic features of three unrelated families with PLP1 mutations and reviewed PLP1‐related ca...

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Detalles Bibliográficos
Autores principales: Yao, Li, Zhu, Zeyu, Zhang, Chao, Tian, Wotu, Cao, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014006/
https://www.ncbi.nlm.nih.gov/pubmed/36622199
http://dx.doi.org/10.1002/acn3.51722

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014006/
https://www.ncbi.nlm.nih.gov/pubmed/36622199
http://dx.doi.org/10.1002/acn3.51722

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