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X连锁脊髓和延髓肌萎缩症中的雄激素受体异常。

Androgen receptor abnormality in X-linked spinal and bulbar muscular atrophy.

作者信息

Matsuura T, Demura T, Aimoto Y, Mizuno T, Moriwaka F, Tashiro K

机构信息

Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.

出版信息

Neurology. 1992 Sep;42(9):1724-6. doi: 10.1212/wnl.42.9.1724.

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.

摘要

X连锁脊髓延髓肌萎缩症(SBMA)通常与女性化和性腺功能减退有关。我们在三名SBMA患者的阴囊皮肤中未能发现雄激素受体(AR),并提出AR异常是该疾病的病因。

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