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Article

Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families.

Neurology - 1 Aug 1998

Zhou Y X, Wang G X, Tang B S, Li W D, Wang D A, Lee H S, Sambuughin N, Zhou L S, Tsuji S, Yang B X, Goldfarb L G

Abstract excerpt

Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats, whereas the normal alleles carried 14 to 28 repeats. One or two CAA triplets within the CAG tract were seen in normal, but not in the expanded alleles. A strong inverse correlation was established between the number of CAG repeats and the...

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PMID: 9710044
DOI: 10.1212/wnl.51.2.595

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