肌肉病临床研究进展
详细信息    查看全文 | 推荐本文 |
  • 英文篇名:Research progress of muscular diseases
  • 作者:张成 ; 王倞
  • 英文作者:ZHANG Cheng;WANG Liang;Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University;
  • 关键词:肌疾病 ; 中国 ; 综述
  • 英文关键词:Muscular diseases;;China;;Review
  • 中文刊名:XDJB
  • 英文刊名:Chinese Journal of Contemporary Neurology and Neurosurgery
  • 机构:中山大学附属第一医院神经内科;
  • 出版日期:2018-01-31 09:39
  • 出版单位:中国现代神经疾病杂志
  • 年:2018
  • 期:v.18
  • 基金:国家自然科学基金资助项目(项目编号:81771359);国家自然科学基金资助项目(项目编号:81471280);; 广东省广州市2015年产学研专项项目(项目编号:1561000153)~~
  • 语种:中文;
  • 页:XDJB201802009
  • 页数:7
  • CN:02
  • ISSN:12-1363/R
  • 分类号:44-50
摘要
随着神经科学技术的发展和对肌肉病认识的深入,我国国民经济和社会发展第十二个五年规划(简称"十二五")时期,肌肉病临床研究,包括肌肉病诊断、治疗和预防取得重大进展,这些成果对中国乃至世界肌肉病诊断、治疗与预防均有重要贡献。本文拟就国家"十二五"时期的肌肉病临床研究进展进行简要综述。
        As the development of neuroscience technology and further realization of muscular diseases in Chinese doctors,there are a lot of clinical researches of muscular diseases in China during the period of Twelfth Five-Year Plan for National Economic and Social Development.These important advances contribute to diagnosis,treatment and prevention of muscular diseases in China and even in the whole world.We described these advances in this review.
引文
[1]Zhang H,Zhu Y,Sun Y,Liang Y,Li Y,Zhang Y,Deng L,Wen X,Zhang C.Serum creatinine level:a supplemental index to distinguish Duchenne muscular dystrophy from Becker muscular dystrophy[J].Dis Markers,2015:ID141856.
    [2]Wang L,Chen M,He R,Sun Y,Yang J,Xiao L,Cao J,Zhang H,Zhang C.Serum creatinine distinguishes Duchenne muscular dystrophy from Becker muscular dystrophy in patients aged<=3years:a retrospective study[J].Front Neurol,2017,8:196.
    [3]Boca SM,Nishida M,Harris M,Rao S,Cheema AK,Gill K,Seol H,Morgenroth LP,Henricson E,Mc Donald C,Mah JK,Clemens PR,Hoffman EP,Hathout Y,Madhavan S.Discovery of metabolic biomarkers for Duchenne muscular dystrophy within a natural history study[J].PLo S One,2016,11:E0153461.
    [4]Li WZ,Zheng YM,Du J,Zhang W,LüH,Wang ZX,Xiao JX,Yuan Y.Muscle magnetic resonance imaging of Duchenne muscular dystrophy[J].Zhonghua Shen Jing Ke Za Zhi,2014,47:16-20[.李文竹,郑艺明,杜婧,张巍,吕鹤,王朝霞,肖江喜,袁云.迪谢内肌营养不良骨骼肌磁共振成像研究[J].中华神经科杂志,2014,47:16-20.]
    [5]Chen W,Feng SW,Feng HY,Zhang C.Characterization of muscular involvement in patients with Duchenne muscular dystrophy by magnetic resonance imaging[J].Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2014,31:372-375[.陈维,冯善伟,冯慧宇,张成.Duchenne型肌营养不良症患者肌肉磁共振成像特征的演变[J].中华医学遗传学杂志,2014,31:372-375.]
    [6]Li W,Zheng Y,Zhang W,Wang Z,Xiao J,Yuan Y.Progression and variation of fatty infiltration of the thigh muscles in Duchenne muscular dystrophy,a muscle magnetic resonance imaging study[J].Neuromuscul Disord,2015,25:375-380.
    [7]Liang YY,Cao JQ,Ling J,Lin EJ,Li M,Zhang C.Study on T2mapping in thigh muscles of patients with Duchenne muscular dystrophy[J].Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2015,15:437-441[.梁颖茵,操基清,凌坚,林尔坚,李鸣,张成.Duchenne型肌营养不良症患儿大腿肌肉T2mapping成像研究[J].中国现代神经疾病杂志,2015,15:437-441.]
    [8]Wang MH,Dong YR,Xin J,Niu YY,Wu SW.Correlation between T2mapping in Duchenne muscular dystrophy and clinical motor function[J].Zhonghua Zai Hai Jiu Yuan Yi Xue,2016,4:255-257.[王梅慧,董玉茹,辛婧,牛亚运,吴士文.Duchenne型肌营养不良T2mapping成像与临床运动功能的相关性[J].中华灾害救援医学,2016,4:255-257.]
    [9]Fu Y,Dong Y,Zhang C,Sun Y,Zhang S,Mu X,Wang H,Xu W,Wu S.Diffusion tensor imaging study in Duchenne muscular dystrophy[J].Ann Transl Med,2016,4:109.
    [10]Yang J,Li SY,Li YQ,Cao JQ,Feng SW,Wang YY,Zhan YX,Yu CS,Chen F,Li J,Sun XF,Zhang C.MLPA-based genotypephenotype analysis in 1053 Chinese patients with DMD/BMD[J].BMC Med Genet,2013,14:29.
    [11]Chen WJ,Lin QF,Zhang QJ,He J,Liu XY,Lin MT,Murong SX,Liou CW,Wang N.Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing[J].Clin Chim Acta,2013,423:35-38.
    [12]Guo R,Zhu G,Zhu H,Ma R,Peng Y,Liang D,Wu L.DMDmutation spectrum analysis in 613 Chinese patients with dystrophinopathy[J].J Hum Genet,2015,60:435-442.
    [13]Ji X,Zhang J,Xu Y,Long F,Sun W,Liu X,Chen Y,Jiang W.MLPA application in clinical diagnosis of DMD/BMD inShangha[iJ].J Clin Lab Anal,2015,29:405-411.Li X,Zhao L,Zhou S,Hu C,Shi Y,Shi W,Li H,Liu F,Wu B
    [14]Wang Y.A comprehensive database of Duchenne and Becker muscular dystrophy patients(0-18 years old)in East China[J].Orphanet J Rare Dis,2015,10:5.
    [15]Wei X,Dai Y,Yu P,Qu N,Lan Z,Hong X,Sun Y,Yang G,Xie S,Shi Q,Zhou H,Zhu Q,Chu Y,Yao F,Wang J,He J,Yang Y,Liang Y,Yang Y,Qi M,Yang L,Wang W,Wu H,Duan J,Shen C,Wang J,Cui L,Yi X.Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD:a multi-population diagnostic study[J].Eur J Hum Genet,2014,22:110-118.
    [16]Chen C,Ma H,Zhang F,Chen L,Xing X,Wang S,Zhang X,Luo Y.Screening of Duchenne muscular dystrophy(DMD)mutations and investigating its mutational mechanism in Chinese patients[J].PLo S One,2014,9:E108038.
    [17]Juan-Mateu J,Gonzalez-Quereda L,Rodriguez MJ,Baena M,Verdura E,Nascimento A,Ortez C,Baiget M,Gallano P.DMDmutations in 576 dystrophinopathy families:a step forward in genotype-phenotype correlations[J].PLo S One,2015,10:E0135189.
    [18]Aartsma-Rus A,Van Deutekom JC,Fokkema IF,Van Ommen GJ,Den Dunnen JT.Entries in the Leiden Duchenne muscular dystrophy mutation database:an overview of mutation types and paradoxical cases that confirm the reading-frame rule[J].Muscle Nerve,2006,34:135-144.
    [19]Yuan WL,Huang CY,Wang JF,Xie SL,Nie RQ,Liu YM,Liu PM,Zhou SX,Chen SQ,Huang WJ.R25G mutation in exon 1of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B[J].Chin Med J(Engl),2009,122:2840-2845.
    [20]Luo SS,Xi JY,Zhu WH,Zhao CB,Lu JH,Lin J,Wang Y,Lu J,Qiao K.Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A[J].Muscle Nerve,2012,46:723-729.
    [21]Jin SQ,Yu M,Zhang W,Lyu H,Yuan Y,Wang ZX.Dysferlin gene mutation spectrum in a large cohort of Chinese patients with dysferlinopathy[J].Chin Med J(Engl),2016,129:2287-2293.
    [22]Yu M,Zheng Y,Jin S,Gang Q,Wang Q,Yu P,Lv H,Zhang W,Yuan Y,Wang Z.Mutational spectrum of Chinese LGMDpatients by targeted next-generation sequencing[J].PLo S One,2017,12:E0175343.
    [23]Hong D,Zhang W,Wang W,Wang Z,Yuan Y.Asian patients with limb girdle muscular dystrophy 2I(LGMD2I)[J].J Clin Neurosci,2011,18:494-499.
    [24]Zheng W,Chen H,Deng X,Yuan L,Yang Y,Song Z,Yang Z,Wu Y,Deng H.Identification of a novel mutation in the titin gene in a Chinese family with limb-girdle muscular dystrophy 2J[J].Mol Neurobiol,2016,53:5097-5102.
    [25]Ou LY,Sun YM,Li J,Wang L,Li H,Zeng Y,Liang YY,Zhang C.Limb-girdle muscular dystrophy type 2D:clinical and genetic analysis of a family[J].Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2017,17:609-615[.欧俐羽,孙毅明,利婧,王倞,李欢,曾缨,梁颖茵,张成.肢带型肌营养不良症2D型一家系临床表型及基因突变分析[J].中国现代神经疾病杂志,2017,17:609-615.]
    [26]Zhao Z,Hu J,Sakiyama Y,Okamoto Y,Higuchi I,Li N,Shen H,Takashima H.DYSF mutation analysis in a group of Chinese patients with dysferlinopathy[J].Clin Neurol Neurosurg,2013,115:1234-1237.
    [27]Chan B,Chen SP,Wong WC,Mak CM,Wong S,Chan KY,Chan AY.RYR1-related central core myopathy in a Chinese adolescent boy[J].Hong Kong Med J,2011,17:67-70.
    [28]Hong D,Wang Z,Zhang W,Xi J,Lu J,Luan X,Yuan Y.Aseries of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene[J].Neuropathol Appl Neurobiol,2011,37:257-270.
    [29]Li H,Chen Q,Liu F,Zhang X,Liu T,Li W,Liu S,Zhao Y,Wen B,Dai T,Lin P,Gong Y,Yan C.Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles[J].J Hum Genet,2011,56:335-338.
    [30]Lu Y,Li X,Wang M,Li X,Zhang F,Li Y,Zhang M,Da Y,Yu J,Jia J.A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1[J].PLo S One,2012,7:E39288.
    [31]Chang X,Jin Y,Zhao H,Huang Q,Wang J,Yuan Y,Han Y,Qin J.Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease[J].J Child Neurol,2013,28:384-388.
    [32]Yin X,Pu CQ,Wang Q,Liu JX,Mao YL.Clinical and pathological features of patients with nemaline myopathy[J].Mol Med Rep,2014,10:175-182.
    [33]Chen T,Pu C,Wang Q,Liu J,Mao Y,Shi Q.Clinical,pathological,and genetic features of dynamin-2-related centronuclear myopathy in China[J].Neurol Sci,2015,36:735-741.
    [34]Dai YJ,Chen L,Guo YP,Guan HZ,Liu Z,Ren HT,Zhao YH,Cui LY.Clinical and pathological features of 20 patients of glycogen storage disease typeⅡ[J].Zhonghua Shen Jing Ke Za Zhi,2011,44:91-95[.代英杰,陈琳,郭玉璞,关鸿志,刘智,任海涛,赵燕环,崔丽英.糖原累积病Ⅱ型20例临床及病理特点[J].中华神经科杂志,2011,44:91-95.]
    [35]Liu Q,Zhao J,Wang ZX,Zhang W,Yuan Y.Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease typeⅡ[J].Zhonghua Yi Xue Za Zhi,2013,93:1981-1985[.刘祺,赵娟,王朝霞,张巍,袁云.糖原累积病Ⅱ型七例的临床表现及基因突变分析[J].中华医学杂志,2013,93:1981-1985.]
    [36]Li HF,Chen WJ,Ni W,Wu ZY.Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family:coexistence of a PRRT2 mutation and two CLCN1 mutations[J].Neurosci Bull,2014,30:1010-1016.
    [37]Su J,Li CF,Tao Z,Wang M,Li SJ,Liu FH,Li J,Cao BZ.Clinical and electrophysiological analysis of congenital myasthenic syndrome due to CHRNE gene mutation[J].Zhonghua Shen Jing Ke Za Zhi,2014,47:847-851[.苏净,李传芬,陶珍,王敏,李慎军,刘付红,李靖,曹秉振.CHRNE基因突变导致的先天性肌无力综合征的临床和电生理分析[J].中华神经科杂志,2014,47:847-851.]
    [38]Yin X,Pu CQ,Huang XS,Mao YL,Liu JX,Wang Q.Clinical and pathological features of 12 cases with nemaline myopathy[J].Zhonghua Shen Jing Ke Za Zhi,2013,46:676-680[.尹西,蒲传强,黄旭升,毛燕玲,刘洁晓,汪茜.杆状体肌病12例患者临床与病理特点[J].中华神经科杂志,2013,46:676-680.]
    [39]Xi JY,Lu JH,Zhao CB,Lin J,Luo SS,Zhu WH,Qiao K,Huang J,Wang Y.Clinical features and electron transfer flavoprotein dehydrogenase gene mutation analysis in 35Chinese patients with lipid storage myopathy[J].Zhonghua Shen Jing Ke Za Zhi,2011,44:314-321[.奚剑英,卢家红,赵重波,林洁,罗苏珊,朱雯华,乔凯,黄俊,汪寅.脂质沉积性肌病35例的临床特点及电子转移黄素蛋白脱氢酶基因突变分析[J].中华神经科杂志,2011,44:314-321.]
    [40]Zhao D,Hong D,Zhang W,Yao S,Qi X,Lv H,Zheng R,Feng L,Huang Y,Yuan Y,Wang Z.Mutations in mitochondrially encoded complexⅠenzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes[J].JHum Genet,2011,56:759-764.
    [41]Ke Q,Luo B,Qi M,Du Y,Wu W.Gender differences in penetrance and phenotype in hypokalemic periodic paralysis[J].Muscle Nerve,2013,47:41-45.
    [42]Zhang L,Shen H,Zhao Z,Bing Q,Hu J.Cardiac effects of the c.1583 C->G LMNA mutation in two families with EmeryDreifuss muscular dystrophy[J].Mol Med Rep,2015,12:5065-5071.
    [43]Yang Y,Mao B,Wang L,Mao L,Zhou A,Cao J,Hu J,Zhou Y,Pan Y,Wei X,Yang S,Mu F,Liu Z.Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2gene in a patient with congenital muscular dystrophy[J].Mol Med Rep,2015,11:3687-3693.
    [44]Zhang YZ,Zhao DH,Yang HP,Liu AJ,Chang XZ,Hong DJ,Bonnemann C,Yuan Y,Wu XR,Xiong H.Novel collagenⅥmutations identified in Chinese patients with Ullrich congenital muscular dystrophy[J].World J Pediatr,2014,10:126-132.
    [45]Yang HP,Zhang YZ,Ding J,Jiao H,LüJL,Xiong H.Clinical and mutation analyses of a Chinese family with Bethlem myopathy[J].Zhonghua Yi Xue Za Zhi,2012,92:2820-2824.[杨海坡,张艳芝,丁娟,焦辉,吕俊兰,熊晖.一个Bethlem肌病家系的临床表型及分子遗传学研究[J].中华医学杂志,2012,92:2820-2824.]
    [46]Xu C,Qi J,Shi Y,Feng Y,Zang W,Zhang J.Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia:case report[J].Int J Clin Exp Pathol,2015,8:1050-1056.
    [47]Lu X,Pu C,Huang X,Liu J,Mao Y.Distal myopathy with rimmed vacuoles:clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53Chinese patients[J].Neurol Res,2011,33:1025-1031.
    [48]Dai Y,Wei X,Zhao Y,Ren H,Lan Z,Yang Y,Chen L,Cui L.Acomprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing[J].Neuromuscul Disord,2015,25:617-624.
    [49]Wang ZQ,Wang N,van der Maarel S,Murong SX,Wu ZY.Distinguishing the 4q A and 4q B variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population[J].Eur J Hum Genet,2011,19:64-69.
    [50]Lin F,Wang ZQ,Lin MT,Murong SX,Wang N.New insights into genotype-phenotype correlations in Chinese facioscapulohumeral muscular dystrophy:a retrospective analysis of 178 patients[J].Chin Med J(Engl),2015,128:1707-1713.
    [51]Li XH.Interpretation of"Diagnosis and management of Duchenne muscular dystrophy:a guide for families(2011version)"[J].Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2015,15:350-354[.李西华.欧洲Duchenne型肌营养不良症诊断与护理家庭指南手册(2011版)解读[J].中国现代神经疾病杂志,2015,15:350-354.]
    [52]Hu J,Jiang L.Diagnosis and management of Duchenne muscular dystrophy,part 2:implementation of multidisciplinary care[J].Er Ke Yao Xue Za Zhi,2012,18:41-48[.胡君,蒋莉.Duchenne型肌营养不良的诊治与管理,2:多学科协作模式[J].儿科药学杂志,2012,18:41-48.]
    [53]Zhang C,Yang J.Rehabilitation therapy of Duchenne muscular dystrophy[J].Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2012,12:261-265[.张成,杨娟.重视Duchenne型肌营养不良症的康复治疗[J].中国现代神经疾病杂志,2012,12:261-265.]
    [54]Hu J,Ye Y,Kong M,Hong S,Cheng L,Wang Q,Qin J,Zou L,Jiang L.Daily prednisone treatment in Duchenne muscular dystrophy in southwest China[J].Muscle Nerve,2015,52:1001-1007.
    [55]Bing Q,Hu J,Li N,Zhao Z,Shen HR,Yuan JH,Liu Y.Clinical and glucocorticosteroid therapeutic analyses of 96patients with Duchenne muscular dystrophy[J].Zhonghua Shen Jing Ke Za Zhi,2011,44:745-749[.邴琪,胡静,李娜,赵哲,沈宏锐,袁军辉,刘彦.Duchenne型肌营养不良96例临床及糖皮质激素治疗分析[J].中华神经科杂志,2011,44:745-749.]
    [56]Jing H,Keyou H,Qi B.Analyses of 70 patients with Duchenne muscular dystrophy receiving intermittent intravenous combined with oral glucocorticoid therapy[J].Neuromuscul Disord,2013,23:801.
    [57]Cao JQ,Zhang C,Li YQ,Yang J,Liang YY,Feng SW,Zhang X,Li J,Zhang HL,Zhu YL,Geng J,Yang LQ.Clinical characteristics and gene mutation analysis of riboflavinresponsive lipid storage myopathy:report of 3 cases in 2families and review of literature[J].Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2014,14:479-484[.操基清,张成,李亚勤,杨娟,梁颖茵,冯善伟,张旭,利婧,张惠丽,朱瑜龄,耿嘉,杨丽卿.核黄素反应性脂质沉积性肌病临床特征与基因突变分析:两家系三例报告并文献复习[J].中国现代神经疾病杂志,2014,14:479-484.]
    [58]Wen B,Dai T,Li W,Zhao Y,Liu S,Zhang C,Li H,Wu J,Li D,Yan C.Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations[J].J Neurol Neurosurg Psychiatry,2010,81:231-236.
    [59]Ke Q,Luo B,Qi M,Du Y,Wu W.Gender differences in penetrance and phenotype in hypokalemic periodic paralysis[J].Muscle Nerve,2013,47:41-45.
    [60]Yang J,Feng WX,Cao JQ,Wang YY,Li YQ,Huang SB,Luo YJ,Liu ZL,Sun YM,Liu ZH,Zhang C.Clinical efficacy of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ[J].Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2014,14:411-415[.杨娟,冯伟勋,操基清,王艳云,李亚勤,黄石标,罗燕君,刘焯霖,孙毅明,刘振华,张成.Myozyme对一例依赖呼吸机辅助通气的晚发型糖原贮积病Ⅱ型患者疗效研究[J].中国现代神经疾病杂志,2014,14:411-415.]
    [61]Zhang T,Liu S,Wei T,Yong J,Mao Y,Lu X,Xie J,Ke Q,Jin F,Qi M.Development of a comprehensive real-time PCR assay for dystrophin gene analysis and prenatal diagnosis of Chinese families[J].Clin Chim Acta,2013,424:33-38.
    [62]Li T,Wu D,Hou QF,Wang L,Guo QN,Kang B,Liu HY,Yang K,Ding XB,Liao SX.Efficiency of multiplex ligationdependent probe amplification combined with short tandem repeat linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy[J].Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2013,30:40-44[.李涛,吴东,侯巧芳,王莉,郭谦楠,康冰,刘红彦,杨科,丁雪冰,廖世秀.MLPA联合遗传连锁分析在假肥大型肌营养不良症产前诊断中的价值[J].中华医学遗传学杂志,2013,30:40-44.]
    [63]Wang WJ,Zhu HY,Zhu RF,Yang Y,Zhu XY,Duan HL,Zhang Y,Wu X.Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy[J].Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2013,30:45-48.[王皖骏,朱海燕,朱瑞芳,杨滢,朱湘玉,段红蕾,张颖,吴星.假肥大型肌营养不良症家系的基因检测与产前诊断[J].中华医学遗传学杂志,2013,30:45-48.]
    [64]Li Q,Li SY,Zhang HM,He WZ,Ma XY,Wang XM,Xian JJ,Sun XF,Chen DJ,Yu YH.Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy[J].Zhonghua Fu Chan Ke Za Zhi,2013,48:161-164[.黎青,李少英,张慧敏,何文智,马晓燕,王晓蔓,冼嘉嘉,孙筱放,陈敦金,余艳红.MLPA技术用于假性肥大型肌营养不良症产前基因诊断的价值[J].中华妇产科杂志,2013,48:161-164.]
    [65]Yang J,Xie HF,Cao JQ,Zheng H,Zhou CQ,Liu ZH,Zhu YL,Zhan YX,Shen XT,Li YQ,Zhang C.Study on preimplantation genetic diagnosis and follow-up for Duchenne muscular dystrophy[J].Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi,2015,15:458-463[.杨娟,谢惠芳,操基清,郑卉,周灿权,刘振华,朱瑜龄,詹益鑫,沈晓婷,李亚勤,张成.Duchenne型肌营养不良症胚胎植入前遗传学诊断及随访研究[J].中国现代神经疾病杂志,2015,15:458-463.]
    [66]Bladen CL,Rafferty K,Straub V,Monges S,Moresco A,Dawkins H,Roy A,Chamova T,Guergueltcheva V,Korngut L,Campbell C,Dai Y,Bari?ic N,Kos T,Brabec P,Rahbek J,Lahdetie J,Tuffery-Giraud S,Claustres M,Leturcq F,Ben YaouR,Walter MC,Schreiber O,Karcagi V,Herczegfalvi A,Viswanathan V,Bayat F,de la Caridad Guerrero Sarmiento I,Ambrosini A,Ceradini F,Kimura E,van den Bergen JC,Rodrigues M,Roxburgh R,Lusakowska A,Oliveira J,Santos R,Neagu E,Butoianu N,Artemieva S,Rasic VM,Posada M,Palau F,Lindvall B,Bloetzer C,Karaduman A,Topaloglu H,Inal S,Oflazer P,Stringer A,Shatillo AV,Martin AS,Peay H,Flanigan KM,Salgado D,von Rekowski B,Lynn S,Heslop E,Gainotti S,Taruscio D,Kirschner J,Verschuuren J,Bushby K,Béroud C,Lochmüller H.The TREAT-NMD Duchenne muscular dystrophy registries:conception,design,and utilization by industry and academia[J].Hum Mutat,2013,34:1449-1457.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700