Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1.

Huahua ZhongLi ZengXuefan YuQing KeJihong DongYan ChenLijun LuoXueli ChangJunhong GuoYiqi WangHui XiongRongrong LiuChangxia LiuJibao WuJie LinJianying XiWenhua ZhuSong TanFuchen LiuJiahong LuChongbo ZhaoSu-Shan Luo

Published in: Orphanet journal of rare diseases (2024)

The Chinese Han DM1 patients presented milder phenotypes compared to their Caucasian and Japanese counterparts. A male predominance and an early age of onset were identified in male Chinese Han DM1 patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
clinical trial
insulin resistance
copy number
glycemic control
duchenne muscular dystrophy