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Article

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families.

Journal of the neurological sciences - 1 Apr 2001

Shimazaki H, Takiyama Y, Sakoe K, Amaike M, Nagaki H, Namekawa M, Sasaki H, Nakano I, Nishizawa M

Abstract excerpt

Intergenerational stability of the CAG repeat number has been considered to be a specific molecular feature of SCA6 compared with other CAG repeat diseases. Nevertheless, we showed meiotic instability of the CAG repeats in the SCA6/CACNL1A gene in two Japanese SCA6 families, including de novo expansion. In one family, the CAG20 allele expanded to the CAG26 one during paternal transmission, and in the other...

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PMID: 11311290
DOI: 10.1016/s0022-510x(01)00466-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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