Article
Distal hereditary neuropathy associated with a novel mutation in alanyl-aminoacyl-tRNA synthetase.
Clinical neuropathology - 1 Jan 2000
Yuan Yuan, Hong Daojun, Gao Xuguang, Zhang Jun
Abstract excerpt
To report a new genetic cause of distal hereditary motor neuropathy (dHMN), which is likely associated with worsening during pregnancy. We collected the clinical data of a patient with severe weakness of the lower limbs induced by repeated pregnancy and performed relevant experimental examinations, including neuromuscular electrophysiological examination, neuromuscular biopsy, and genetic testing. The patient...
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