Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.

Chengsi WuHaijie XiangRan ChenYilei ZhengMin ZhuShuyun ChenYanyan YuYun PengYaqing YuJianwen DengMeihong ZhouDao-Jun Hong

Published in: Annals of clinical and translational neurology (2022)

This study further extends the genetic heterogeneity of dHMN. Given some dHMN patients may be associated with nucleotides repeat expansion, STR screening is necessary to perform in genetically unsolved patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
patient reported outcomes
copy number