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Novel compound heterozygous mutations of theSPG11gene in Korean families with hereditary spastic paraplegia with thin corpus callosum

โœ Scribed by Sung-Min Kim; Jeong-Seon Lee; Suhyun Kim; Hyun-Jung Kim; Man-Ho Kim; Kyoung-Min Lee; Yoon-Ho Hong; Kyung Seok Park; Jung-Joon Sung; Kwang-Woo Lee


Publisher
Springer
Year
2009
Tongue
English
Weight
462 KB
Volume
256
Category
Article
ISSN
0340-5354

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Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2