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
newly diagnosed
peritoneal dialysis
type diabetes
early onset
dna methylation