Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature

被引：0
|
作者：
Stephan Neudecker
Michael Krasnianski
Erik Bahn
Stephan Zierz
机构：
[1] Martin-Luther-University Halle-Wittenberg,Department of Neurology
[2] Georg-August-University Göttingen,Department of Neuropathology
来源：
Acta Neuropathologica | 2004年 / 108卷
关键词：
Rimmed vacuoles; Facioscapulohumeral muscular dystrophy;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Rimmed vacuoles (RV) are a characteristic pathological feature in inclusion body myositis, but may also occur in other neuromuscular disorders, such as distal myopathies, oculopharyngeal myopathy, polymyositis, rigid spine syndrome, congenital myopathies, and some limb girdle muscular dystrophies, as well as in various neurogenic diseases. We describe a patient with RV in familial facioscapulohumeral muscular dystrophy (FSHD) associated with an FSHD-typical deletion on chromosome 4q35. Thus, FSHD should be included in the differential diagnosis of neuromuscular disorders with RV.
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页码：257 / 259
页数：2
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