Nihei K, Kamoshita S, Atsumi T
Brain Dev. 1979;1(1):61-7. doi: 10.1016/s0387-7604(79)80036-4.
An unique myopathy described by Ullrich in 1930 was reported in a 4-year-old Japanese boy. Major clinical findings included proximal joint contracture, muscle hypotonia, prominent calcaneus, high-arched palate, and normal intelli gence. Muscle biopsy showed rather small muscle fivers with variations in size and proliferation of connective tissue. A review of 15 cases in the literature revealed this type of myopathy as a distinctive entity to be classified as a myopathic arthrogryposis multiplex congenita, rather than in the group of muscular dystrophies.
1930年乌尔里希描述的一种独特的肌病在一名4岁日本男孩身上被报道。主要临床发现包括近端关节挛缩、肌张力减退、跟骨突出、高拱腭和智力正常。肌肉活检显示肌纤维相当小，大小不一且结缔组织增生。对文献中15例病例的回顾表明，这种类型的肌病是一种独特的实体，应归类为先天性多发性肌病性关节挛缩，而不是肌肉营养不良症组。
