Article
A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia.
Cerebellum (London, England) - 1 Feb 2017
Lindquist Suzanne Granhøj, Møller Lisbeth Birk, Dali Christine I, Marner Lisbeth, Kamsteeg Erik-Jan, Nielsen Jørgen Erik, Hjermind Lena Elisabeth
Abstract excerpt
Spinocerebellar ataxia type 11 (SCA11) is rare and has previously been described in four families worldwide. We report a Danish family with onset of symptoms in early childhood and affected family members in two generations. The proband, a Danish female born in 1968, and family members were examined. Exome sequencing was performed and a "movement disorders" gene panel consisting of approximately 200 genes was...
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