换一批
换一批摘要Hereditary spastic paraplegia (HSP) is one of the most.heterogeneous genetic neurodegenerative diseases,caused by mutations in more than 50 different genes.The eighth HSP locus,SPG8,is on chromosome 8p24.13.SPG8 is a rare autosomal dominant-HSP (AD-HSP) caused by mutations in the KIAA0196 gene,with only seven SPG8families described to date.1 Here,we described the clinical characteristics of AD-HSP caused by a novel mutation in the KIAA0196 gene in a Chinese family.
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栏目名称
SHORT COMMUNICATION
DOI
10.3760/cma.j.issn.0366-6999.20140078
发布时间
2014-06-05
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