New phenotype of RTN2 ‐related spectrum: Complicated form of spastic paraplegia‐12

OBJECTIVE: Spastic paraplegia‐12 (SPG12) is a subtype of hereditary spastic paraplegia caused by Reticulon‐2 (RTN2) mutations. We described the clinical and genetic features of three SPG12 patients, functionally explored the potential pathogenic mechanism of RTN2 mutations, and reviewed RTN2‐related...

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Detalles Bibliográficos
Autores principales: Tian, Wotu, Zheng, Haoran, Zhu, Zeyu, Zhang, Chao, Luan, Xinghua, Cao, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380179/
https://www.ncbi.nlm.nih.gov/pubmed/35684947
http://dx.doi.org/10.1002/acn3.51605

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380179/
https://www.ncbi.nlm.nih.gov/pubmed/35684947
http://dx.doi.org/10.1002/acn3.51605

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