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Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia

✍ Scribed by Shi Guo Liu; Jian Jun Zhao; Mao You Zhuang; Fei Feng Li; Qing Jun Zhang; Shang Zhi Huang; Feng Yuan Che; De Guo Lu; Shi En Liu; Ji Jun Teng; Xu Ma

Book ID: 119302528
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 614 KB
Volume: 266
Category: Article
ISSN: 0022-510X
DOI: 10.1016/j.jns.2007.09.024

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Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati