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Article

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease.

Nature genetics - 1 Oct 1993

Myers R H, MacDonald M E, Koroshetz W J, Duyao M P, Ambrose C M, Taylor S A, Barnes G, Srinidhi J, Lin C S, Whaley W L

Abstract excerpt

Huntington's disease (HD) chromosomes contain an expanded unstable (CAG)n repeat in chromosome 4p16.3. We have examined nine families with potential de novo expression of the disease. With one exception, all of the affected individuals had 42 or more repeat units, well above the normal range. In four families, elderly unaffected relatives inherited the same chromosome as that containing the expanded repeat in the...

Topics

Adult
Age of Onset
Aged
Aged, 80 and over
Chromosomes, Human, Pair 4
Female
Haplotypes
Humans
Huntington Disease
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 8252042
DOI: 10.1038/ng1093-168

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8252042-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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