{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:56:35Z","timestamp":1791147395475,"version":"4.1.0"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"20","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,10,15]]},"DOI":"10.1093\/hmg\/ddq314","type":"journal-article","created":{"date-parts":[[2010,8,1]],"date-time":"2010-08-01T00:26:36Z","timestamp":1280622396000},"page":"3995-4006","source":"Crossref","is-referenced-by-count":107,"title":["Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies"],"prefix":"10.1093","volume":"19","author":[{"given":"Yiumo Michael","family":"Chan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Keramaris-Vrantsis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hart G.","family":"Lidov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James H.","family":"Norton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Zinchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen E.","family":"Gruber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randy","family":"Thresher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek J.","family":"Blake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jignya","family":"Ashar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi L.","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,7,30]]},"reference":[{"key":"key\n\t\t\t\t20170522131319_DDQ314C1","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1016\/0092-8674(91)90035-W","article-title":"Membrane organization of the dystrophin\u2013glycoprotein complex","volume":"66","author":"Ervasti","year":"1991","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C2","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1083\/jcb.122.4.809","article-title":"A role for the dystrophin\u2013glycoprotein complex as a transmembrane linker between laminin and actin","volume":"122","author":"Ervasti","year":"1993","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C3","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1007\/s10038-006-0056-7","article-title":"The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis","volume":"51","author":"Kanagawa","year":"2006","journal-title":"J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C4","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/345315a0","article-title":"Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle","volume":"345","author":"Ervasti","year":"1990","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C5","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1093\/oxfordjournals.jbchem.a123276","article-title":"Glycoprotein complex anchoring dystrophin to sarcolemma","volume":"108","author":"Yoshida","year":"1990","journal-title":"J. Biochem"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C6","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/355696a0","article-title":"Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix","volume":"355","author":"Ibraghimov-Beskrovnaya","year":"1992","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C7","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/0092-8674(94)90051-5","article-title":"A role for dystrophin-associated glycoproteins and utrophin in agrin-induced AChR clustering","volume":"77","author":"Campanelli","year":"1994","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C8","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/0092-8674(94)90052-3","article-title":"Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor","volume":"77","author":"Gee","year":"1994","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C9","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1093\/emboj\/18.4.863","article-title":"Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins","volume":"18","author":"Talts","year":"1999","journal-title":"EMBO J."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C10","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1083\/jcb.200105003","article-title":"A stoichiometric complex of neurexins and dystroglycan in brain","volume":"154","author":"Sugita","year":"2001","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C11","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1083\/jcb.145.6.1325","article-title":"\u03b1-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability","volume":"145","author":"Montanaro","year":"1999","journal-title":"J. Cell Biol."},{"issue":"Pt. 2","key":"key\n\t\t\t\t20170522131319_DDQ314C12","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1242\/jcs.112.2.209","article-title":"Dystrophic phenotype induced in vitro by antibody blockade of muscle alpha-dystroglycan\u2013laminin interaction","volume":"112","author":"Brown","year":"1999","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C13","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1038\/nn.2160","article-title":"Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation","volume":"11","author":"Sato","year":"2008","journal-title":"Nat. Neurosci."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C14","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/0014-5793(95)00628-M","article-title":"Electron microscopic evidence for a mucin-like region in chick muscle alpha-dystroglycan","volume":"368","author":"Brancaccio","year":"1995","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C15","doi-asserted-by":"crossref","first-page":"2359","DOI":"10.1016\/j.febslet.2005.03.033","article-title":"Aberrant glycosylation of alpha-dystroglycan causes defective binding of laminin in the muscle of chicken muscular dystrophy","volume":"579","author":"Saito","year":"2005","journal-title":"FEBS Lett."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C16","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/nature00837","article-title":"Post-translational disruption of dystroglycan\u2013ligand interactions in congenital muscular dystrophies","volume":"418","author":"Michele","year":"2002","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C17","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/nature00838","article-title":"Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy","volume":"418","author":"Moore","year":"2002","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C18","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0896-6273(03)00301-5","article-title":"Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization","volume":"38","author":"Saito","year":"2003","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C19","doi-asserted-by":"crossref","first-page":"10567","DOI":"10.1523\/JNEUROSCI.2457-08.2008","article-title":"Brain and eye malformations resembling Walker\u2013Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast","volume":"28","author":"Satz","year":"2008","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C20","doi-asserted-by":"crossref","first-page":"13136","DOI":"10.1523\/JNEUROSCI.0474-09.2009","article-title":"Visual impairment in the absence of dystroglycan","volume":"29","author":"Satz","year":"2009","journal-title":"J. Neurosci."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C21","doi-asserted-by":"crossref","first-page":"417","DOI":"10.2174\/156652407780831601","article-title":"Congenital muscular dystrophies involving the O-mannose pathway","volume":"7","author":"Martin","year":"2007","journal-title":"Curr. Mol. Med."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C22","doi-asserted-by":"crossref","first-page":"2853","DOI":"10.1093\/hmg\/ddg307","article-title":"Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan","volume":"12","author":"Longman","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C23","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/jmg.2005.031963","article-title":"POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker\u2013Warburg syndrome","volume":"42","author":"van Reeuwijk","year":"2005","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C24","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1086\/342975","article-title":"Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker\u2013Warburg syndrome","volume":"71","author":"Beltran-Valero de Bernabe","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C25","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/S1534-5807(01)00070-3","article-title":"Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1","volume":"1","author":"Yoshida","year":"2001","journal-title":"Dev. Cell"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C26","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/28256","article-title":"An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy","volume":"394","author":"Kobayashi","year":"1998","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C27","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1093\/hmg\/10.25.2851","article-title":"Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C","volume":"10","author":"Brockington","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C28","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1086\/324412","article-title":"Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan","volume":"69","author":"Brockington","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C29","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1073\/pnas.0307228101","article-title":"Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity","volume":"101","author":"Manya","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C30","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1093\/glycob\/cwi094","article-title":"Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies","volume":"15","author":"Grewal","year":"2005","journal-title":"Glycobiology"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C31","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/j.cell.2004.06.003","article-title":"Molecular recognition by LARGE is essential for expression of functional dystroglycan","volume":"117","author":"Kanagawa","year":"2004","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C32","doi-asserted-by":"crossref","first-page":"20851","DOI":"10.1074\/jbc.M500069200","article-title":"Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding","volume":"280","author":"Patnaik","year":"2005","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C33","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.neures.2006.08.009","article-title":"Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan","volume":"56","author":"Yamamoto","year":"2006","journal-title":"Neurosci. Res."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C34","doi-asserted-by":"crossref","first-page":"e61","DOI":"10.1136\/jmg.2003.013870","article-title":"Mutations in the FKRP gene can cause muscle\u2013eye\u2013brain disease and Walker\u2013Warburg syndrome","volume":"41","author":"Beltran-Valero de Bernabe","year":"2004","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C35","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/S0002-9440(10)63160-4","article-title":"Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies","volume":"164","author":"Brown","year":"2004","journal-title":"Am. J. Pathol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C36","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/ana.10559","article-title":"Phenotypic spectrum associated with mutations in the fukutin-related protein gene","volume":"53","author":"Mercuri","year":"2003","journal-title":"Ann. Neurol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C37","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1001\/archneur.62.12.1894","article-title":"Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I","volume":"62","author":"Boito","year":"2005","journal-title":"Arch. Neurol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C38","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1002\/ana.20283","article-title":"Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I","volume":"56","author":"Poppe","year":"2004","journal-title":"Ann. Neurol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C39","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1111\/j.1750-3639.2008.00198.x","article-title":"A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity","volume":"19","author":"Jimenez-Mallebrera","year":"2009","journal-title":"Brain. Pathol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C40","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1212\/01.wnl.0000346518.68110.60","article-title":"Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study","volume":"72","author":"Mercuri","year":"2009","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C41","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1093\/brain\/awn335","article-title":"Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies","volume":"132","author":"Ackroyd","year":"2009","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C42","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/mus.20833","article-title":"Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo","volume":"36","author":"Keramaris-Vrantsis","year":"2007","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C43","doi-asserted-by":"crossref","first-page":"3319","DOI":"10.1093\/hmg\/11.26.3319","article-title":"Functional requirements for fukutin-related protein in the Golgi apparatus","volume":"11","author":"Esapa","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C44","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1093\/hmg\/ddn009","article-title":"A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice","volume":"17","author":"Kobuke","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C45","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1093\/hmg\/ddn029","article-title":"Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation","volume":"17","author":"Bartoli","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C46","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/35093537","article-title":"Conditional control of gene expression in the mouse","volume":"2","author":"Lewandoski","year":"2001","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C47","doi-asserted-by":"crossref","first-page":"4938","DOI":"10.1074\/jbc.M512578200","article-title":"A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis","volume":"281","author":"Sher","year":"2006","journal-title":"J. Biol. Chem."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C48","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/S0002-9440(10)64263-0","article-title":"Expression of alpha7beta1 integrin splicing variants during skeletal muscle regeneration","volume":"161","author":"Kaariainen","year":"2002","journal-title":"Am. J. Pathol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C49","doi-asserted-by":"crossref","first-page":"C627","DOI":"10.1152\/ajpcell.00329.2007","article-title":"Increasing alpha 7 beta 1\u2013integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression","volume":"294","author":"Liu","year":"2008","journal-title":"Am. J. Physiol. Cell Physiol."},{"issue":"(Pt. 22)","key":"key\n\t\t\t\t20170522131319_DDQ314C50","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1242\/jcs.110.22.2873","article-title":"Altered expression of the alpha7beta1 integrin in human and murine muscular dystrophies","volume":"110","author":"Hodges","year":"1997","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C51","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/ana.21482","article-title":"Brain involvement in muscular dystrophies with defective dystroglycan glycosylation","volume":"64","author":"Clement","year":"2008","journal-title":"Ann. Neurol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C52","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.mod.2005.12.003","article-title":"A genetic model for muscle\u2013eye\u2013brain disease in mice lacking protein O-mannose 1,2-N-acetylglucosaminyltransferase (POMGnT1)","volume":"123","author":"Liu","year":"2006","journal-title":"Mech. Dev."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C53","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1093\/hmg\/ddg153","article-title":"Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development","volume":"12","author":"Takeda","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C54","doi-asserted-by":"crossref","first-page":"2673","DOI":"10.1093\/hmg\/11.21.2673","article-title":"Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle\u2013eye\u2013brain disorders","volume":"11","author":"Holzfeind","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C55","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.nbd.2004.12.018","article-title":"Basement membrane fragility underlies embryonic lethality in fukutin\u2013null mice","volume":"19","author":"Kurahashi","year":"2005","journal-title":"Neurobiol. Dis."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C56","doi-asserted-by":"crossref","first-page":"14126","DOI":"10.1073\/pnas.0405899101","article-title":"Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality","volume":"101","author":"Willer","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C57","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1093\/hmg\/6.6.831","article-title":"Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice","volume":"6","author":"Williamson","year":"1997","journal-title":"Hum. Mol. Gen"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C58","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.bbadis.2009.10.016","article-title":"Mutations alter secretion of fukutin-related protein","volume":"1802","author":"Lu","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170522131319_DDQ314C59","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/ana.20824","article-title":"High prevalence and phenotype\u2013genotype correlations of limb girdle muscular dystrophy type 2I in Denmark","volume":"59","author":"Sveen","year":"2006","journal-title":"Ann. Neurol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C60","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1001\/archneur.63.2.251","article-title":"Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations","volume":"63","author":"Mercuri","year":"2006","journal-title":"Arch. Neurol."},{"key":"key\n\t\t\t\t20170522131319_DDQ314C61","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.mod.2008.12.001","article-title":"Reduced proliferative activity of primary POMGnT1-null myoblasts in vitro","volume":"126","author":"Miyagoe-Suzuki","year":"2009","journal-title":"Mech. Dev."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/19\/20\/3995\/13911041\/ddq314.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T15:51:10Z","timestamp":1635868270000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddq314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,30]]},"references-count":61,"journal-issue":{"issue":"20","published-online":{"date-parts":[[2010,7,30]]},"published-print":{"date-parts":[[2010,10,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddq314","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2010,7,30]]}}}