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 

作者机构：Department of Neuromuscular Research National Institute of Neuroscience National Center of Neurology and P sychiatry 4-1-1 Ogawa-Higashi Kodaira Tokyo 187-8502 Japan.Dr 

出 版 物：《世界核心医学期刊文摘(神经病学分册)》 (Digest of the World Core Medical Journals.Clinical Neurology)

年 卷 期：2006年第2期

页      面：51-51页

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

主　　题：自体吞噬 肌病 肌肉疾病 肌纤维膜 空泡 

摘      要：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.