Genomed Health Care Centre, Diagnostic Department, Warsaw, Poland.
Republican Scientific and Practical Center of Cardiology, Minsk, Belarus.
Folia Med (Plovdiv). 2022 Oct 31;64(5):853-862. doi: 10.3897/folmed.64.e66292.
Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (LAMP2). Three main clinical features of this pathology are cardiomyopathy, skeletal myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of LAMP2 protein.
丹-沃综合征（Danon disease，DD）是一种罕见的 X 连锁遗传性疾病，预后较差，由溶酶体相关膜蛋白 2 基因（LAMP2）的突变引起。该病理有三个主要临床特征，即心肌病、骨骼肌病和智力迟钝。大多数丹-沃综合征突变会产生过早的终止密码子，导致 LAMP2 蛋白减少或缺失。
