Spinal and Bulbar Muscular Atrophy (SBMA)
{"Image DocumentName": "Spinal and Bulbar Muscular Atrophy (SBMA)", "Image ImageDescription": "Human. X-linked disease. the AR gene is on X-chrom. - Only males affected. - gain-of-function of SBMA AR. Females may show few clinical symptoms: --> random X-chromosome inactivation ?? --> effect of testosterone ?? TWO Homozygous females --> NO CLINICAL SYMPTOMS. Schmidt et al. Neurology (2002) 59: Tg mouse for SBMA. AR transgene randomly integrated in the genome. - Only males affected (!!) - gain-of-function of SBMA AR. Females DO NOT show clinical symptoms. --> random X-chromosome inactivation NOT RELATED. --> effect of testosterone. Katsuno et al. Neuron (2002) 35: Katsuno et al. Nat Med (2003) 9:", "Image XResolution": "37", "Image YResolution": "37", "Image ResolutionUnit": "Pixels/Centimeter", "Image Software": "SlidePlayer", "Image YCbCrPositioning": "Centered"}