Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.

  title={Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.},
  author={Chantal A. Mutsaers and Thomas M Wishart and Douglas J Lamont and Markus Riessland and Julia Schreml and Laura H. Comley and Lyndsay M Murray and Simon H Parson and Hanns Lochm{\"u}ller and Brunhilde Wirth and Kevin Talbot and Thomas H Gillingwater},
  journal={Human molecular genetics},
  volume={20 22},
Low levels of full-length survival motor neuron (SMN) protein cause the motor neuron disease, spinal muscular atrophy (SMA). Although motor neurons undoubtedly contribute directly to SMA pathogenesis, the role of muscle is less clear. We demonstrate significant disruption to the molecular composition of skeletal muscle in pre-symptomatic severe SMA mice, in the absence of any detectable degenerative changes in lower motor neurons and with a molecular profile distinct from that of denervated… CONTINUE READING
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Presymptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

  • LM Murray, L Sheena, D Bäumer, SH Parson, K Talbot, TH Gillingwater
  • Hum. Mol. Genet.,
  • 2010
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