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1、授予單位代碼10089議學(xué)號(hào)或申請?zhí)?8010010012HebeiMedicalUniversity碩士學(xué)位論文專業(yè)學(xué)位GNE肌病臨床、病理診斷及鑒別診斷分析研究生：郭璇導(dǎo)師：胡靜教授專業(yè)：神經(jīng)病學(xué)2015年3月河北醫(yī)科大學(xué)學(xué)位論文使用授權(quán)及知識(shí)產(chǎn)權(quán)歸屬承諾本學(xué)位論文在導(dǎo)師（或指導(dǎo)小組）的指導(dǎo)下，由本人獨(dú)立完成。本學(xué)位論文研究所獲的研究成果，其知識(shí)產(chǎn)權(quán)歸河北醫(yī)科大學(xué)所有。河北醫(yī)科大學(xué)有權(quán)對本學(xué)位論文進(jìn)行交流、公幵和使用。凡發(fā)表與學(xué)位論文主要內(nèi)容相關(guān)的論文，第一署名單位為河北醫(yī)科大學(xué)，試驗(yàn)材料、原始數(shù)據(jù)、申報(bào)的專利等知識(shí)產(chǎn)權(quán)均歸河北醫(yī)科大學(xué)所有。否則，承擔(dān)相應(yīng)的法律責(zé)任。研究生簽名
2、導(dǎo)師簽章：1二級學(xué)院領(lǐng)導(dǎo)簽章:%丫年>月>日河北醫(yī)科大學(xué)研究生學(xué)位論文獨(dú)創(chuàng)性聲明本論文是在導(dǎo)師指導(dǎo)下進(jìn)行的研究工作及取得的研究成果，除了文中特別加以標(biāo)注和致謝等內(nèi)容外，文中不包含其他人已經(jīng)發(fā)表或撰寫的研究成果，指導(dǎo)教師對此進(jìn)行了審定。本論文由本人獨(dú)立撰寫，文責(zé)自負(fù)。.乂&年J月勿曰目錄中文摘要················································································1英文摘要······························································
3、··················4英文縮寫················································································8研究論文GNE肌病臨床、病理診斷及鑒別診斷分析前言················································································9材料與方法·······································································9結(jié)果·····
4、·········································································17附圖··············································································19附表··············································································22討論·····················································
5、·························25結(jié)論··············································································28參考文獻(xiàn)········································································29綜述GNE肌病臨床、病理、分子生物學(xué)研究進(jìn)展·······················33致謝··························································
6、··························43個(gè)人簡歷··············································································44中文摘要GNE肌病臨床、病理診斷及鑒別診斷分析摘要目的：GNE肌病是GNE基因變異致尿苷二磷酸-N-乙酰葡糖2-表位酶/N-乙酰甘露糖激酶（uridinediphospho-N-acetylgucosamine2-epimerase/N-acetyl-mannosaminekinase，GNE/MNK）活性下降、肌纖維內(nèi)唾液酸（sialicacid）合成不足，引
7、起的遺傳骨骼肌疾病，呈常染色體隱性。GNE肌病又稱伴邊緣空泡遠(yuǎn)端肌?。―istalmyopathywithrimmedvacuoles,DMRV）、遺傳性包涵體肌病2型（hereditaryinclusionbodymyopathy，hIBM2）或Nonaka肌病（Nonakamyopathy），基本臨床表現(xiàn)：青年/成年早期起病的遠(yuǎn)端肌無力、肌萎縮，脛骨前肌受累、股四頭肌至疾病晚期仍相對保存良好；活檢骨骼肌特征性病理改變：邊緣空泡（rimmedvacuoles，RV）
