Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
X LiuX DuanY ZhangA SunDong-Sheng FanPublished 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.