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Article

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.

European journal of neurology - 1 Jun 2016

Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna M G, Pareyson D, Fratta P, Sorarù G

Abstract excerpt

BACKGROUND AND PURPOSE: Disease severity varies considerably among patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to investigate the role of androgen receptor (AR) polymorphic repeats in SBMA phenotype. METHODS: We analyzed the length of AR polyQ and polyG tracts in 159 SBMA patients. RESULTS: No relationship between polyG size or polyG/polyQ haplotypes and clinical phenotype was found. An...

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Identifiers

PMID: 27141859
DOI: 10.1111/ene.13001

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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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