Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy 英文参考文献.docVIP

下载本文档

4
0
约4.14万字
约 9页
2017-05-11 发布于上海
举报
版权申诉

Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy 英文参考文献.doc

1、本文档共9页，可阅读全部内容。
2、原创力文档（book118）网站文档一经付费（服务费），不意味着购买了该文档的版权，仅供个人/单位学习、研究之用，不得用于商业用途，未经授权，严禁复制、发行、汇编、翻译或者网络传播等，侵权必究。
3、本站所有内容均由合作方或网友上传，本站不对文档的完整性、权威性及其观点立场正确性做任何保证或承诺！文档内容仅供研究参考，付费前请自行鉴别。如您付费，意味着您自己接受本站规则且自行承担风险，本站不退款、不进行额外附加服务；查看《如何避免下载的几个坑》。如果您已付费下载过本站文档，您可以点击这里二次下载。
4、如文档侵犯商业秘密、侵犯著作权、侵犯人身权等，请点击“版权申诉”（推荐），也可以打举报电话：400-050-0827(电话支持时间：9:00-18:30)。
5、该文档为VIP文档，如果想要下载，成为VIP会员后，下载免费。
6、成为VIP后，下载本文档将扣除1次下载权益。下载后，不支持退款、换文档。如有疑问请联系我们。
7、成为VIP后，您将拥有八大权益，权益包括：VIP文档下载权益、阅读免打扰、文档格式转换、高级专利检索、专属身份标志、高级客服、多端互通、版权登记。
8、VIP文档为合作方或网友上传，每下载1次，网站将根据用户上传文档的质量评分、类型等，对文档贡献者给予高额补贴、流量扶持。如果你也想贡献VIP文档。上传文档

Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy 英文参考文献

DystrophinGeneMutationLocationandtheRiskof CognitiveImpairmentinDuchenneMuscularDystrophy PeterJ.Taylor1,2.,GrantA.Betts2.,SarahMaroulis1,ChristianGilissen3,RobynL.Pedersen2,DavidR. Mowat2,4,HeatherM.Johnston2,MichaelF.Buckley1,3* 1Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia, 2Sydney Neuromuscular Centre, Sydney Children’s Hospital, Randwick, Sydney, New South Wales, Australia, 3Department of Human Genetics, Radboud University Nijmegen MedicalCentre,Nijmegen,TheNetherlands,4TheSchoolofWomen’sandChildren’sHealth,UniversityofNewSouthWales,Sydney,NewSouthWales,Australia Abstract Background: A significant component of the variation in cognitive disability that is observed in Duchenne muscular dystrophy (DMD) is known to be under genetic regulation. In this study we report correlations between standardised measuresofintelligenceandmutationalclass,mutationsize,mutationlocationandtheinvolvementofdystrophinisoforms. MethodsandResults:SixtytwomalesubjectswererecruitedaspartofastudyofthecognitivespectruminboyswithDMD conductedattheSydneyChildren’sHospital(SCH).All62childrenreceivedneuropsychologicaltestingfromasingleclinical psychologist and had a defined dystrophin gene (DMD) mutation; including DMD gene deletions, duplications and DNA pointmutations.FullScaleIntelligenceQuotients(FSIQ)inunrelatedsubjectswiththesamemutationwerefoundtobe highlycorrelated(r=0.83,p=0.0008),incontrasttoresultsinpreviouspublications.In58cases(94%)itwaspossibleto definitively assign a mutation as affecting one or more dystrophin isoforms. A strong association between the risk of cognitive disability and the involvement of groups of DMD isoforms was found. In particular, improvements in the correlation of FSIQ with mutation location were identified when a new classification system for mutations affecting the Dp140isoformwasimplemented. Significance:ThesedatarepresentoneofthelargeststudiesofFSIQandm