摘要
Myotonic dystrophy type 1 (DM1),or Steiner’s disease,is an autosomal dominant disorder caused by the expansion of unstable trinucleotide repeats (CTG) in the 3’ untranslated region of the myotonic dystrophy protein kinase gene (DMPK) (Brook et al.,1992;Mahadevan et al.,1992).The number of CTG repeats observed in normal individuals is in a range of 5-34,while the individuals with 35-49 CTG repeats are usually asymptomatic but at risk of
基金
supported by the National Basic Research Program of China(2010CB529601 and 2013CB945404)to B.L.Wu
the Fudan Young Teacher Funding to Y.An,the higher Education Research Project of Gansu Province(2015B-094)to X.Lan
Shanghai Children’s Hospital Funding(2016YMS001)to X.Lan
