McLay J S, Norris A, Kerr F
Department of Medicine and Therapeutics, Aberdeen Royal Infirmary.
Scott Med J. 1992 Oct;37(5):149-50. doi: 10.1177/003693309203700507.
Myotonic dystrophy is a well recognised and well defined multisystem disorder which is inherited in an autosomal dominant fashion through a locus on chromosome 19. The disease itself is characterised by rigidity and degeneration of skeletal muscle, cataract formation, gonadal atrophy, frontal baldness and mental retardation. Like many inherited disorders there is a variable expression and so diverse clinical presentations can occur.
强直性肌营养不良是一种公认的、明确的多系统疾病,以常染色体显性方式通过19号染色体上的一个位点遗传。该疾病本身的特征是骨骼肌僵硬和退化、白内障形成、性腺萎缩、前额秃发和智力迟钝。与许多遗传性疾病一样,存在可变表达,因此可能出现多种不同的临床表现。