Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report

BACKGROUND: Hereditary spastic paraplegia 49 (HSP49) is an autosomal recessive genetic disease first discovered in 2012; and which the mutation primarily affects Bukharian Jewish patients. CASE PRESENTATION: The present case reports the first instance of HSP49 detected in China. The patient had norm...

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Detalles Bibliográficos
Autores principales: Guan, Yalin, Lu, Hui, Zuo, Wenchao, Wang, Xiaodan, Wang, Shimin, Wang, Xinping, Liu, Feng, Jia, Kun, Gao, Rui, Wu, Hao, Shi, Zhihong, Ji, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819938/
https://www.ncbi.nlm.nih.gov/pubmed/35130874
http://dx.doi.org/10.1186/s12883-022-02572-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819938/
https://www.ncbi.nlm.nih.gov/pubmed/35130874
http://dx.doi.org/10.1186/s12883-022-02572-x

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