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Article

The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease.

Journal of the neurological sciences - 1 Jul 1996

Matsumura R, Takayanagi T, Fujimoto Y, Murata K, Mano Y, Horikawa H, Chuma T

Abstract excerpt

Trinucleotide repeat expansion in the Machado-Joseph disease (MJD) gene has been found in 26 patients from 20 unrelated Japanese families. Expanded alleles had 68 to 84 repeats, whereas normal alleles had 14 to 37 repeats. The age of onset was inversely correlated with the repeat length. To evalu...

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PMID: 8836972

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8836972-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease.PMID 8836972Read ↗

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