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Article

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

17 Feb 2023

Abstract excerpt

CAG repeat expansions in exon 1 of the AR gene on the X chromosome cause spinal and bulbar muscular atrophy, a male-specific progressive neuromuscular disorder associated with a variety of extra-neurological symptoms. The disease has a reported male prevalence of approximately 1:30 000 or less, but the AR repeat expansion frequency is unknown. We established a pipeline, which combines the use of the...

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PMID: 36797998
DOI: 10.1093/brain/awad050

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