Article
Spinocerebellar ataxia 7 (SCA7).
Cytogenetic and genome research - 1 Jan 2003
Lebre A-S, Brice A
Abstract excerpt
Spinocerebellar ataxia 7 (SCA7) is a progressive autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia associated with progressive macular dystrophy. The disease affects primarily the cerebellum and the retina, but also many other CNS structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat encoding a polyglutamine tract in the...
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