Article
A mouse model of spinal and bulbar muscular atrophy.
Human molecular genetics - 1 Sept 2002
McManamny Patrick, Chy Hun S, Finkelstein David I, Craythorn Rebecca G, Crack Peter J, Kola Ismail, Cheema Surindar S, Horne Malcolm K, Wreford Nigel G, O'Bryan Moira K, De Kretser David M, Morrison John R
Abstract excerpt
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease, caused by the expansion of a trinucleotide repeat (TNR) in exon 1 of the androgen receptor (AR) gene. This disorder is characterized by degeneration of motor and sensory neurons, proximal muscular atrophy, and endocrine abnormalities, such as gynecomastia and reduced fertility. We describe the development of a transgenic model of...
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