A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement
A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement
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一种迟发性多器官受累的新型自噬性空泡肌病
作者：
D. Kaneda;K. Sugie;A. Yamamoto;H. Matsumoto;T. Kato;I. Nonaka;I. Nishino
作者报告了一位41岁的男性，患有一种新型的成人自噬性空泡性肌病（AVM），累及多器官，包括眼睛、心脏、肝脏、肺、肾脏和骨骼肌。空泡膜具有与Danon病、x连锁肌病伴过度自噬和婴儿AVM的空泡相似的肌层特征。在Danon病中缺失的溶酶体相关膜蛋白-2出现。这种疾病具有明显的临床特征，是自噬性空泡性肌病的第四种，其中空泡膜具有肌膜特征。
The authors report a 41-year-old man with a novel form of adult-onset autophagic vacuolar myopathy (AVM) with multiple organ involvement including eyes, heart, liver, lung, kidney, and skeletal muscle. The vacuolar membranes had sarcolemmal features similar to vacuoles in Danon disease, X-linked myopathy with excessive autophagy, and infantile AVM. Lysosome associated membrane protein-2, absent in Danon disease, was present. Defined by distinct clinical features, this disease constitutes the fourth entity in the group of autophagic vacuolar myopathy in which the vacuolar membranes have features of sarcolemma.