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学科主题: 临床医学
题名:
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family
作者: 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
发表日期: 2008-12-01
DOI: 10.1111/j.1440-1789.2008.00924.x
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/68152
Appears in Collections:北京大学第一临床医学院_神经内科_期刊论文

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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

Recommended Citation:
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.
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