Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy

被引：53
作者：
Nonaka I. [1 ]
Noguchi S. [1 ]
Nishino I. [1 ]
机构：
[1] Division of Neuromuscular Research, National Institute of Neuroscience, Natl. Center of Neurology/Psychiatry, Kodaira
来源：
Current Neurology and Neuroscience Reports | 2005年 / 5卷 / 1期
关键词：
polyQ Disease; Distal Myopathy; Sialic Acid Level; Inclusion Body Myopathy; Oculopharyngeal Muscular Dystrophy;
D O I：
10.1007/s11910-005-0025-0
中图分类号：
学科分类号：
摘要：
Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (hIBM) share similar clinical features, including onset in young adulthood with preferential involvement of the anterior compartment of the lower legs and sparing of the quadriceps femoris muscles. The most significant muscle pathology is the presence of rimmed vacuoles, which appear to play a major role in muscle atrophy and weakness. After the discovery of the gene locus in both DMRV and hIBM on chromosome 9 and mutations in the gene encoding the enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), it became clear that they are allelic disorders. From gene analysis, it is evident that these diseases are not restricted to people of Japanese and Jewish ancestry, but that they are widely distributed throughout all ethnic groups. Although defective glycosylation to a muscle fiber has been suggested, the mechanism by which myofibrillar degeneration is followed by rimmed vacuole formation remains to be clarified. Copyright © 2005 by Current Science Inc.
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页码：61 / 65
页数：4
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