Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

  title={Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy},
  author={A. L. Spada and E. Wilson and D. Lubahn and A. Harding and K. Fischbeck},
  • A. L. Spada, E. Wilson, +2 authors K. Fischbeck
  • Published 1991
  • Biology, Medicine
  • Nature
  • X-LINKED spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity. We have now investigated whether the androgen receptor gene on the proximal long arm of the X chromosome is a candidate gene for this disease. In patient samples we found androgen receptor gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region. These amplified repeats were absolutely… CONTINUE READING
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