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肝豆状核变性(HLD)系伴有铜代谢障碍的常染色体隐性遗传病。骨-肌型HLD是以骨骼-肌肉为主要特征的一种特殊类型,易被临床长期误诊。本文报告我科1989~1995年间收治的5例骨-肌型HLD患者的误诊情况。
Hepatolenticular degeneration (HLD) is associated with autosomal recessive disorders of copper metabolism. Bone-muscle type HLD is a special type of bone-muscle as the main features, easy to be misdiagnosed in clinical long-term. This article reports misdiagnosis of 5 cases of bone-type HLD admitted to our department from 1989 to 1995.