Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

@article{Deng2010ScapuloperonealSM,
  title={Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4},
  author={Han-xiang Deng and Christopher Jon Klein and Jianhua Yan and Yong Shi and Yanhong Wu and Faisal A Wahed Fecto and Hau-Jie Yau and Yi Yang and Hong Zhai and Nailah Siddique and E. Tessa Hedley-Whyte and Robert Delong and Marco Martina and Peter J. Dyck and Teepu Siddique},
  journal={Nature Genetics},
  year={2010},
  volume={42},
  pages={165-169}
}
Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth disease type 2C (CMT2C)) are phenotypically heterogeneous disorders involving topographically distinct nerves and muscles. We originally described a large New England family of French-Canadian origin with SPSMA and an American family of English and Scottish descent with CMT2C. We mapped SPSMA and CMT2C risk loci to 12q24.1–q24.31 with an… CONTINUE READING
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