外显子
肌病
医学
弱点
表型
无义突变
心肌病
突变
内科学
病理
基因
遗传学
生物
心力衰竭
解剖
错义突变
作者
Daojun Hong,Zhihong Shi,Zhaoxia Wang,Yun Yuan
出处
期刊:Clinical Neuropathology
[Dustri-Verlag Dr. Karl Feistle]
日期:2012-07-01
卷期号:31 (07): 224-231
被引量:11
摘要
Danon disease is caused by mutations of the lysosome-associated membrane protein-2 (LAMP2) gene at Xq24. Male patients usually manifested as severe cardiomyopathy, mild myopathy and mental retardation. We describe two patients: the first patient presented with severe hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, proximal muscle weakness, and chronic painless diarrhea; the second patient manifested as limb-girdle muscle weakness, mild left ventricular diastolic dysfunction, sub-clinical neuropathy. Muscle biopsies indicated autophagic vacuolar myopathy. Immunologic analysis demonstrated absence of the LAMP2 protein in the first patient, while a smear of expression was detected in the second patient. Two nonsense mutations (p.E298X and p. K402X) were identified in the two cases, respectively located in exon 7 and exon 9B of the LAMP2 gene. Our findings indicated that patients with Danon disease caused by mutations in exon 1 – 8 manifested as a typically severe phenotype, while patients with mutations in exon 9 of the LAMP2B isoform presented with a relatively benign phenotype.
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