一种新型先天性X连锁自体吞噬空泡肌病

• 作 者: Tanaka M. Sugie K. I.Nishino 刘康永
• 机 构: Department of Neuromuscular Research National Institute of Neuroscience National Center of Neurolog
• 出 处: 世界核心医学期刊文摘(神经病学分册)
• 发表日期: 2006年02期
• 关键词: 肌病 空泡 自体吞噬 肌纤维膜 肌张力减低 呼吸困难 吞咽困难 单体型分析 病理检查 基底膜

In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal deposition of C5-9 membrane attack complex and calcium, histologically indistinguishable from childhood-onset X-linked myopathy with excessive autophagy (XMEA). Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations.

In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal deposition of C5-9 membrane attack complex and calcium, histologically indistinguishable from childhood-onset X-linked myopathy with excessive autophagy (XMEA). Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations.