Article
The clinical and genetic spectrum of spinocerebellar ataxia 14.
Neurology - 12 Apr 2005
Chen D-H, Cimino P J, Ranum L P W, Zoghbi H Y, Yabe I, Schut L, Margolis R L, Lipe H P, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind W H, Bird T D
Abstract excerpt
Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.