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Article

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.

Neuromuscular disorders : NMD - 1 Jan 2022

Müller Kai Ivar, Nilssen Øivind, Nebuchenykh Maria, Løseth Sissel, Jonsrud Christoffer, Hoem Gry, Van Ghelue Marijke, Arntzen Kjell Arne

Abstract excerpt

We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They were referred to...

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PMID: 34922802
DOI: 10.1016/j.nmd.2021.11.007

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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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