Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

β-III spectrin is present in the brain and is known to be important in the function of the cerebellum. Heterozygous mutations in SPTBN2, the gene encoding β-III spectrin, cause Spinocerebellar Ataxia Type 5 (SCA5), an adult-onset, slowly progressive, autosomal-dominant pure cerebellar ataxia. SCA5 i...

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Main Authors: Lise, S, Clarkson, Y, Perkins, E, Kwasniewska, A, Sadighi Akha, E, Schnekenberg, R, Suminaite, D, Hope, J, Baker, I, Gregory, L, Green, A, Allan, C, Lamble, S, Jayawant, S, Quaghebeur, G, Cader, M, Hughes, S, Armstrong, R, Kanapin, A, Rimmer, A, Lunter, G, Mathieson, I, Cazier, J, Buck, D, Taylor, J, Bentley, D, McVean, G, Donnelly, P, Knight, S, Jackson, M, Ragoussis, J, Németh, A
格式: Journal article
語言:English
出版: Public Library of Science 2012

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