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Article

Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor--gene expression level.

American journal of human genetics - 1 Oct 1999

Tanaka F, Reeves M F, Ito Y, Matsumoto M, Li M, Miwa S, Inukai A, Yamamoto M, Doyu M, Yoshida M, Hashizume Y, Terao S, Mitsuma T, Sobue G

Abstract excerpt

The factors influencing the tissue-specific pattern of somatic mosaicism in CAG-repeat diseases have not yet been fully resolved. We performed a detailed analysis of the degree of somatic mosaicism in various tissues from 20 patients with spinal and bulbar muscular atrophy (SBMA), including 4 who were deceased. The most outstanding feature was the prominent somatic mosaicism observed in the cardiac and skeletal...

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Identifiers

PMID: 10486315
DOI: 10.1086/302578
PMCID: PMC1288267

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