Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
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ABSTRACT:
SUBMITTER: Subramony SH
PROVIDER: S-EPMC3824261 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
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Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
Subramony S H SH Advincula Joel J Perlman Susan S Rosales Raymond L RL Lee Lillian V LV Ashizawa Tetsuo T Waters Michael F MF
Cerebellum (London, England) 20131201 6
The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His). In this study, we present the results of a detailed neurologi ...[more]
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