Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report

BACKGROUND: Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases with progressive spasticity and weakness in the lower limbs. Mutations in the Spastic Paraplegia gene 7 (SPG7) account for about 5–21% of ARHSP c...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaoqian, Zhang, Lei, Wu, Yanqing, Li, Gang, Chen, Shengcai, Xia, Yuanpeng, Li, Hongge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263041/
https://www.ncbi.nlm.nih.gov/pubmed/30497413
http://dx.doi.org/10.1186/s12883-018-1199-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263041/
https://www.ncbi.nlm.nih.gov/pubmed/30497413
http://dx.doi.org/10.1186/s12883-018-1199-9

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