| http://purl.uniprot.org/citations/36655242 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/36655242 | http://www.w3.org/2000/01/rdf-schema#comment | "Objective: To review the clinical data of 7 patients with Danon disease and analyze their clinical characteristics. Methods: The medical records of 7 patients with Danon disease, who were hospitalized in Peking Union Medical College Hospital of Chinese Academy of Medical Sciences from April 2008 to July 2021, were reviewed and summarized, of which 6 cases were diagnosed as Danon disease by lysosomal-associated membrane protein-2 (LAMP-2) gene mutation detection and 1 case was diagnosed by clinicopathological features. Clinical manifestations, biochemical indexes, electrocardiogram, echocardiography, skeletal muscle and myocardial biopsy and gene detection results were analyzed, and patients received clinical follow-up after discharge. Results: Six patients were male and average age was (15.4±3.5) years and the average follow-up time was (27.7±17.0) months. The main clinical manifestations were myocardial hypertrophy (6/7), decreased myodynamia (2/7) and poor academic performance (3/7). Electrocardiogram features included pre-excitation syndrome (6/7) and left ventricular hypertrophy (7/7). Echocardiography examination evidenced myocardial hypertrophy (6/7), and left ventricular dilatation and systolic dysfunction during the disease course (1/7). The results of skeletal muscle biopsy in 6 patients were consistent with autophagy vacuolar myopathy. Subendocardial myocardial biopsy was performed in 3 patients, and a large amount of glycogen deposition with autophagosome formation was found in cardiomyocytes. LAMP-2 gene was detected in 6 patients, and missense mutations were found in all these patients. During the follow-up period, implantable cardioverter defibrillator implantation was performed in 1 patient because of high atrioventricular block 4 years after diagnosis, and there was no death or hospitalization for cardiovascular events in the other patients. Conclusion: The main clinical manifestations of Danon disease are cardiomyopathy, myopathy and mental retardation. Pre-excitation syndrome is a common electrocardiographic manifestation. Autophagy vacuoles can be seen in skeletal muscle and myocardial pathological biopsies. LAMP-2 gene mutation analysis is helpful in the diagnose of this disease."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.org/dc/terms/identifier | "doi:10.3760/cma.j.cn112148-20221108-00876"xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/author | "Lin X."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/author | "Wu W."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/author | "Zhang S.Y."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/author | "Wang W.W."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/author | "Zhu Y.Y."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/author | "Zhao D.C."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/author | "Fang L.G."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/name | "Zhonghua Xin Xue Guan Bing Za Zhi"xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/pages | "51-57"xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/title | "[Clinical characteristics of Danon disease]."xsd:string |
| http://purl.uniprot.org/citations/36655242 | http://purl.uniprot.org/core/volume | "51"xsd:string |
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