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Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

X LiuX DuanY ZhangA SunDong-Sheng Fan
Published in: European journal of neurology (2020)
Comprehensive genetic testing of dHMN patients allows for identification of the pathogenic mutation in one-third of cases. Pure motor neuropathies and motor neuropathies with minor sensory involvement share many genes with CMT disease. Causes for dHMN-plus phenotypes overlap with motor neuron disease.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • peritoneal dialysis
  • bioinformatics analysis
  • prognostic factors
  • genome wide
  • gene expression
  • patient reported outcomes