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A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family 被引量:2
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作者 LI Xun-hua SONG Chun +6 位作者 CHEN Su-qin ZHOU Yan GUO Hui ZHOU Chun-long YANG Zhi-yun LIANG Yin-xing WANG Yi-ming 《Chinese Medical Journal》 SCIE CAS CSCD 2007年第9期834-837,共4页
Hereditary spastic paraplegia (HSP) (MIM#182600) is a group of heterogeneous neurodegenerative disorders, with 35 underlying loci recognized by the HGNC (HUGO Gene Nomenclature Committee; http://www.gene.ucl.ac.... Hereditary spastic paraplegia (HSP) (MIM#182600) is a group of heterogeneous neurodegenerative disorders, with 35 underlying loci recognized by the HGNC (HUGO Gene Nomenclature Committee; http://www.gene.ucl.ac.uk/nomenclature/) and 10 identified genes ( http : //www. gene. ucl. ac. uk/cgi-bin/nomenc lature/ searchgenes.pl plus NIPA1, last search July 2006). The mode of inheritance may be autosomal dominant, autosomal recessive or X-linked. Among these, autosomal dominant spastic paraplegia (AD-HSP) is the most common type, accounting for 70%-80% of all families. The disease is characterized by lower limb spasticity, hyperreflexia, progressive spastic gait and an extensor plantar response. Pes cavus is one of the commonly reported foot phenotypes. 展开更多
关键词 hereditary spastic paraplegia SPG3A atlastin MUTATION CHINESE
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