Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963.
Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy.
糖原贮积病是肌病和心肌病的重要病因。我们描述了 8 个家系的 10 名患者，他们在儿童或青少年时期发病，患有肌病，其中 8 名患者还患有快速进展性心肌病，其中 4 名需要进行心脏移植。这些患者的 RBCK1 基因均为纯合子或复合杂合子，存在错义或截断突变，该基因编码一种泛素连接酶，在发生心肌病的情况下，骨骼肌和心脏中存在广泛的多聚糖积累。我们的结论是，RBCK1 缺乏是一种常见的多聚糖贮积性肌病的病因，该疾病与进行性肌无力和心肌病相关。
