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Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family

✍ Scribed by Yuan Yuan; Xin Zhou; Feng Ding; Yumin Liu; Jiancheng Tu

Book ID
116772356
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
517 KB
Volume
479
Category
Article
ISSN
0304-3940

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## Abstract Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C Ξ³ in SCA14 families. Most of those mutations have