Danon disease: a case report and literature review.

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作者： Jiamin,Xu ^[1] ; Zhu,Li ^[1] ; Yihai,Liu ^[1] ; Xinlin,Zhang ^[1] ; Fengnan,Niu ^[2] ; Hongyan,Zheng ^[1] ; Lian,Wang ^[1] ; Lina,Kang ^[3] ; Kun,Wang ^[4] ; Biao,Xu ^[5]

作者单位： Department of Cardiology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, 210008, P.R. China. ^[1] Department of Pathology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, 210008, P.R. China. ^[2] Department of Cardiology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, 210008, P.R. China. kanglina@njglyy.com. ^[3] Department of Cardiology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, 210008, P.R. China. kingwang726@163.com. ^[4] Department of Cardiology, Affiliated Drum Tower Hospital, Medical School of Nanjing University, Nanjing, 210008, P.R. China. xubiao62@nju.edu.cn. ^[5]

关键词 Cardiomyopathy Danon disease LAMP2 Mutation NGS

主题词青少年(Adolescent);移码突变(Frameshift Mutation);糖原贮积病Ⅱb型(Glycogen Storage Disease Type IIb);人类(Humans);溶酶体相关膜蛋白质2(Lysosomal-Associated Membrane Protein 2);男(雄)性(Male);系谱(Pedigree)

DOI 10.1186/s13000-021-01100-8

PMID 33933120

发布时间 2022-10-05

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