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고준태(June Tae Ko),김동욱(Dong Wook Kim),김기중(Ki Joong Kim),고태성(Tae Sung Ko),황용승(Yong Seung Hwang),이춘기(Choon Ki Lee) 대한소아신경학회 1993 대한소아신경학회지 Vol.1 No.1
Central core disease is one of benign childhood myopathies, charactorized by its histological feature. Mitochondrial oxidative enzyme activity is absent in this cental core area. Patients shows motor weakness in early childhood and motor developemental delay. The muscle involvement is generalised and symmetrical in the trunk and limbs. The deep tendon reflexes are normal of deminished. Skeletal deformities are not nucommon. Creatine kinase serum levels are normal and the electromyographic abnormalities are nonspecific. The disease course in benign and the electromyographic abnormalities are nonspecific. We experienced 3cases of central core disease. The case 1, a 5 year girl, is the first report in our country. All of the cases showed motor weakness and motor developemental delay. In the case 1 and 3, skeletal deformities were detected such as hip joint contracture, kyphoscoliosis. The were treated with physial therapy and had operative correction. We report 3 cases of Central core disease with brief revew of the litratures.