Article
Evidence of a common founder for SCA12 in the Indian population.
Annals of human genetics - 1 Sept 2005
Bahl S, Virdi K, Mittal U, Sachdeva M P, Kalla A K, Holmes S E, O'Hearn E, Margolis R L, Jain S, Srivastava A K, Mukerji M
Abstract excerpt
Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' region of the PPP2R2B gene on chromosome 5q31-5q32. We found that it accounts for approximately 16% (20/124) of all the autosomal dominant ataxia cases diagnosed in AIIMS, a major tertiary referral centre in North India. The length of the expanded allele in this...
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