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非萎缩性肌强直系指一组复杂的具有遗传异质性的疾病,其中先天性肌强直(MC)较为罕见,是一种相对良性的常染色体显性遗传病,临床上以无痛性骨股肌松弛困难为特点。1876年由丹麦医师Thomsen首先描述其遗传特征,故亦称Thomsen病。本文报告一家两代3例均患有先天性肌强直。临
Non-atrophic myotonia refers to a complex group of genetically heterogeneous diseases, of which congenital myotonia (MC) is relatively rare, is a relatively benign autosomal dominant disease, clinically painless bone Muscle relaxation is characterized by difficulty. In 1876 by the Danish physician Thomsen first described the genetic characteristics, it is also known as Thomsen’s disease. This article reports a case of two generations of three patients with congenital myotonia. Pro