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Androgen receptor abnormality in X‐linked spinal and bulbar muscular atrophy

NeurologyPublished 1 September 1992
Tetsuya Matsuura, Takayoshi Demura, Y Aimoto, Toshiki Mizuno, Fumio Moriwaka, K Tashiro
Citations33
SJR quartileQ1
SJR score2.40
SNIP1.82

TL;DR

It is proposed that AR abnormality is the cause of X-linked spinal and bulbar muscular atrophy, and was unable to find androgen receptor (AR) in the scrota) skin of three patients with SBMA.

Abstract

X-linked spinal and bulbar muscular atrophy (SBMA) is usually associated with feminization and hypogonadism. We were unable to find androgen receptor (AR) in the scrotal skin of three patients with SBMA, and propose that AR abnormality is the cause of the disease.

Keywords

MedicineNeuroscienceBiochemistry, Genetics and Molecular Biology