Androgen receptor abnormality in X-linked spinal and bulbar muscular atrophy.
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.
Matsuura
T
T
Department of Neurology, Hokkaido University School of Medicine, Sapporo, Japan.
Demura
T
T
Aimoto
Y
Y
Mizuno
T
T
Moriwaka
F
F
Tashiro
K
K
D000368:Aged; D008040:Genetic Linkage; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000378:metabolism*; D011944:Receptors, Androgen / Q000032:analysis*; D012611:Scrotum; D012867:Skin / Q000737:chemistry*; D014960:X Chromosome
D011944:Receptors, Androgen