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PNPLA2基因新发纯合移码突变导致中性脂肪沉积症伴肌病1例报告 预览

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摘要 中性脂肪沉积症(neutral lipid storage disease,NLSD)为一种常染色体隐性遗传的脂质沉积性肌病,包括中性脂肪沉积症伴鱼鳞病(neutral lipid storage disease with iehthyosis,NLSDI)和中性脂肪沉积症伴肌病(neutral lipid storage disease with myopathy,NLSDM)。前者在我国尚未见报道。后者是由PNPLA2(patatin-like phospholipase domain-containing protein 2,PNPLA2)基因突变致脂肪甘油三酯水解酶(adipose tridyceride lipase,ATGL)功能缺陷而导致的代谢性肌病,该病于2007年由法国的Fischer等[1]首次报道。截至2016年,国内外累计报道经基因检测证实的NLSDM病例不超过50例,其中中国患者仅数例[2]。
出处 《中风与神经疾病杂志》 2018年第10期935-936,共2页 Journal of Apoplexy and Nervous Diseases
作者简介 通迅作者:漆学良,E-mail:qixueliang766@163.com。
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