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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of alpha-Dystroglycan

dc.contributor.authorStevens, Een_US
dc.contributor.authorCarss, KJen_US
dc.contributor.authorCirak, Sen_US
dc.contributor.authorFoley, Ren_US
dc.contributor.authorTorelli, Sen_US
dc.contributor.authorWiller, Ten_US
dc.contributor.authorTambunan, DEen_US
dc.contributor.authorYau, Sen_US
dc.contributor.authorBrodd, Len_US
dc.contributor.authorSewry, CAen_US
dc.contributor.authorFeng, Len_US
dc.contributor.authorHaliloglu, Gen_US
dc.contributor.authorOrhan, Den_US
dc.contributor.authorDobyns, WBen_US
dc.contributor.authorEnns, GMen_US
dc.contributor.authorManning, Men_US
dc.contributor.authorKrause, Aen_US
dc.contributor.authorSalih, MAen_US
dc.contributor.authorWalsh, CAen_US
dc.contributor.authorHurles, Men_US
dc.contributor.authorCampbell, KPen_US
dc.contributor.authorManzini, MCen_US
dc.contributor.authorStemple, Den_US
dc.contributor.authorLin, Y-Yen_US
dc.contributor.authorMuntoni, Fen_US
dc.contributor.authorConsortium, Uen_US
dc.date.accessioned2016-09-12T15:40:20Z
dc.date.available2013-01-22en_US
dc.date.issued2013-03-07en_US
dc.date.submitted2016-08-10T16:14:38.655Z
dc.identifier.issn0002-9297en_US
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/15141
dc.description.sponsorshipWe are grateful to the UK10K consortium for making this study possible. We wish to thank the following funding bodies: the UK National Specialised Commissioned Team funding for the Congenital Muscular Dystrophies and Congenital Myopathy service, the Great Ormond Street Children’s Charity and the GOSH Biomedical Research Centre (F.M.), the Paul D. Wellstone Muscular Dystrophy Cooperative Research Centre Grant (1U54NS053672; K.P.C., T.W., and F.M.), and the Medical Research Council (MRC) Neuromuscular Centre (F.M.). E.S. is a PhD student supported by the MRC, Great Ormond Street Children’s Charity, and the Child Health Research Appeal Trust (CHRAT) (F.M.). K.J.C. is a PhD student supported by the Wellcome Trust. A.R.F. is a Clinical Research Fellow supported by the Muscular Dystrophy Campaign (F.M.). M.C.M. was supported by a Development Grant from the Muscular Dystrophy Association and by the William Randolph Hearst Fund and is currently the recipient of a Junior Faculty Career Development Award from the Manton Centre for Orphan Disease Research and a K99/R00 Transition to Independence award from the NIH (NICHD, K99HD067379). Sequencing at Boston Children’s Hospital was supported by the Intellectual and Developmental Disabilities Research Centres (CHB DDRC, P30HD19655). Sequencing at the Broad Institute was supported by a grant from NIH and the American Recovery & Reinvestment Act (NIMH RC2MH089952). K.P.C. and C.A.W. are Investigators of the Howard Hughes Medical Institute. We are very grateful to A. Eddaoudi and his team for their excellent support of the flow cytometry core facility at Great Ormond Street Hospital.en_US
dc.format.extent354 - 365en_US
dc.relation.ispartofAMERICAN JOURNAL OF HUMAN GENETICSen_US
dc.rightshttp://dx.doi.org/10.1016/j.ajhg.2013.01.016
dc.titleMutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of alpha-Dystroglycanen_US
dc.typeArticle
dc.rights.holderCopyright © 2013 The American Society of Human Genetics
dc.identifier.doi10.1016/j.ajhg.2013.01.016en_US
pubs.author-urlhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000316161700008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.issue3en_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume92en_US


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