Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.

@article{Sorar2008SpinalAB,
  title={Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females.},
  author={Gianni Sorar{\'u} and Carla D'ascenzo and Alberto Polo and Arianna Palmieri and Linda Baggio and Lodovica Vergani and Cinzia Gellera and Giuseppe Moretto and Elena Pegoraro and Corrado I. Angelini},
  journal={Journal of the neurological sciences},
  year={2008},
  volume={264 1-2},
  pages={100-5}
}
Spinal and bulbar muscular atrophy (SBMA) is an adult form of X-linked motor neuron disease caused by an expansion of a CAG repeat sequence in the first exon of the androgen receptor (AR) gene. Nuclear accumulation of mutant AR with expanded polyglutamines in motor neurons is a major pathogenic mechanism. To characterize muscle involvement in SBMA the skeletal muscle biopsies of 8 SBMA patients and 3 female carriers were studied. Six of 8 SBMA patients showed myogenic changes together with the… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 51 extracted citations

Similar Papers

Loading similar papers…