Spinocerebellar ataxia 7 (sca7) in India: Genotype–/INS;phenotype correlation and insight into origin of mutation in a predisposed endogamous population
- Srivastava, A. K.
- Faruq, M.
- Dada, T.
- Garg, A.
- Singh, S.
- Mukerji, M.
- Behari, M.
DOIAbstract
Background: Spinocerebellar ataxia (SCA7) is characterized by neuro-ophthalmic degeneration and occurs due to CAG repeat expansion in exon 3 of ATXN7 in the region of chromosome 3p12-p21.1. The SCA7 mutation has been identified in various ethnic and geographical regions with highest prevalence in South Africa and in the INS;Scandinavian region
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