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Article

Pathogenic effect of an intermediate-size SCA-6 allele (CAG) <sub>19</sub> in a homozygous patient

23 Oct 2001

Abstract excerpt

SCA6 is caused by CAG expansion in the alpha 1A voltage-dependent calcium channel subunit gene. The authors studied an Italian family in which one patient carried a fully expanded SCA6 allele with 26-CAG repeats, whereas the other affected family member was homozygous for an intermediate-size allele of 19-CAG repeats. Three family members, heterozygous for the intermediate allele, were clinically unaffected. The...

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Identifiers

PMID: 11673601
DOI: 10.1212/wnl.57.8.1502

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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