Article
A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.
BMC medical genetics - 3 Jun 2020
Yu Weiwei, Jin Haiqiang, Deng Jianwen, Nan Ding, Huang Yining
Abstract excerpt
BACKGROUND: Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more than 76 disease-causing loci have been identified in hereditary spastic paraplegia patients....
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