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The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family
Lu, He1; Luan, Xinhua1; Yuan, Yun1,2; Dong, Mingrui1; Sun, Weiping1; Yan, Chuanzhu1
关键词oculopharyngodistal myopathy nuclear inclusions rimmed vacuoles tubulofilamentous inclusion sarcoplasm inclusions
刊名NEUROPATHOLOGY
2008-12-01
DOI10.1111/j.1440-1789.2008.00924.x
28期:6页:599-603
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Neurosciences ; Pathology
研究领域[WOS]Neurosciences & Neurology ; Pathology
关键词[WOS]MUSCULAR-DYSTROPHY ; DISTAL MYOPATHY ; RIMMED VACUOLES ; DISTINCT ; ONSET
英文摘要

Oculopharyngodistal myopathy is a rare type of hereditary myopathy characterised pathologically by the changes of muscular dystrophy with rimmed vacuoles and intra-muscular tubulofilamentous inclusions. Here we report the clinical and myopathological changes in a Chinese family with oculopharyngodistal myopathy. The proband showed external ophthalmoplegia, dysphagia, distal weakness and atrophy in all extremities. Serum creatine kinase level was mildly elevated and a myopathic pattern with myotonic discharge was demonstrated by electromyography (EMG). Molecular genetic analysis showed that the number of trinucleotide repeat expansions in the polyadenylate-binding protein nuclear 1 gene was within the normal limit. No mutations were indentified in the GNE gene. Five other persons with similar symptoms were found in the same generation. Muscle biopsy was performed on the tibialis anterior muscle in the proband. Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes. Ultrastructural examination revealed numerous tubulofilamentous inclusions in both sarcoplasm and nucleus. EMG showed myotonic discharges in oculopharyngodistal myopathy. In addition to the sarcoplasm inclusions, we confirmed that tubulofilamentous inclusions appeared also in the nucleus.

语种英语
WOS记录号WOS:000260337500004
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被引频次:8[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/68152
专题北京大学第一临床医学院_神经内科
作者单位1.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Neuropathol Lab, Beijing 100034, Peoples R China
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GB/T 7714
Lu, He,Luan, Xinhua,Yuan, Yun,et al. The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family[J]. NEUROPATHOLOGY,2008,28(6):599-603.
APA Lu, He,Luan, Xinhua,Yuan, Yun,Dong, Mingrui,Sun, Weiping,&Yan, Chuanzhu.(2008).The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family.NEUROPATHOLOGY,28(6),599-603.
MLA Lu, He,et al."The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family".NEUROPATHOLOGY 28.6(2008):599-603.
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