{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:55:23Z","timestamp":1779238523516,"version":"3.51.4"},"reference-count":36,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2016,10,6]],"date-time":"2016-10-06T00:00:00Z","timestamp":1475712000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008156","name":"Carolinas HealthCare Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0164187","type":"journal-article","created":{"date-parts":[[2016,10,6]],"date-time":"2016-10-06T14:04:16Z","timestamp":1475762656000},"page":"e0164187","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":13,"title":["Progressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice"],"prefix":"10.1371","volume":"11","author":[{"given":"Anthony","family":"Blaeser","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Awano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi-Long","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2016,10,6]]},"reference":[{"key":"ref1","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":"JM Ervasti","year":"1990","journal-title":"Nature"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1093\/oxfordjournals.jbchem.a123276","article-title":"Glycoprotein complex anchoring dystrophin to sarcolemma","volume":"108","author":"M Yoshida","year":"1990","journal-title":"J Biochem"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1016\/0092-8674(91)90035-W","article-title":"Membrane organization of the dystrophin-glycoprotein complex","volume":"66","author":"JM Ervasti","year":"1991","journal-title":"Cell"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1083\/jcb.122.4.809","article-title":"A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin","volume":"122","author":"JM Ervasti","year":"1993","journal-title":"J Cell Biol"},{"key":"ref5","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":"M Kanagawa","year":"2006","journal-title":"J Hum Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/S0960-8966(99)00109-1","article-title":"The Fukuyama congenital muscular dystrophy story","volume":"10","author":"T Toda","year":"2000","journal-title":"Neuromuscul Disord"},{"key":"ref7","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":"A Yoshida","year":"2001","journal-title":"Dev Cell"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/jmg.2005.031963","article-title":"POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome","volume":"42","author":"J van Reeuwijk","year":"2005","journal-title":"J Med Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/ng.2253","article-title":"Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan","volume":"44","author":"T Roscioli","year":"2012","journal-title":"Nat Genet"},{"key":"ref10","article-title":"GTDC2 modifies O-mannosylated alpha-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody","author":"M Ogawa","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ajhg.2013.01.016","article-title":"Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan","volume":"92","author":"E Stevens","year":"2013","journal-title":"Am J Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1016\/j.ajhg.2012.10.009","article-title":"Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly","volume":"91","author":"S Vuillaumier-Barrot","year":"2012","journal-title":"Am J Hum Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.ajhg.2012.07.009","article-title":"Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome","volume":"91","author":"MC Manzini","year":"2012","journal-title":"Am J Hum Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/ng.2252","article-title":"ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome","volume":"44","author":"T Willer","year":"2012","journal-title":"Nat Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.1093\/hmg\/ddt021","article-title":"Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome","volume":"22","author":"K Buysse","year":"2013","journal-title":"Hum Mol Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1126\/science.1233675","article-title":"Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry","volume":"340","author":"LT Jae","year":"2013","journal-title":"Science"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ajhg.2013.01.016","article-title":"Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan","volume":"92","author":"E Stevens","year":"2013","journal-title":"Am J Hum Genet"},{"key":"ref18","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":"H Manya","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0006-291X(03)00924-0","article-title":"Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease","volume":"306","author":"H Manya","year":"2003","journal-title":"Biochem Biophys Res Commun"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/nature12605","article-title":"LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy","volume":"503","author":"MM Goddeeris","year":"2013","journal-title":"Nature"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1093\/glycob\/cws153","article-title":"LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE","volume":"23","author":"A Ashikov","year":"2013","journal-title":"Glycobiology"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1093\/glycob\/cwr131","article-title":"Differential glycosylation of alpha-dystroglycan and proteins other than alpha-dystroglycan by like-glycosyltransferase","volume":"22","author":"P Zhang","year":"2012","journal-title":"Glycobiology"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1126\/science.1214115","article-title":"Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE","volume":"335","author":"K Inamori","year":"2012","journal-title":"Science"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"2209","DOI":"10.1016\/j.celrep.2016.02.017","article-title":"Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy","volume":"14","author":"M Kanagawa","year":"2016","journal-title":"Cell Rep"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.nmd.2010.08.008","article-title":"Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I","volume":"21","author":"E Stensland","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/ana.20824","article-title":"High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark","volume":"59","author":"ML Sveen","year":"2006","journal-title":"Ann Neurol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1111\/apa.12561","article-title":"Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I","volume":"103","author":"M Rasmussen","year":"2014","journal-title":"Acta Paediatr"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.nmd.2012.05.006","article-title":"Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency","volume":"22","author":"M Pane","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.nmd.2013.05.010","article-title":"Limb-girdle muscular dystrophy type 2I is not rare in Taiwan","volume":"23","author":"WC Liang","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.nmd.2008.06.365","article-title":"Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study","volume":"18","author":"K Wahbi","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"ref31","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":"M Poppe","year":"2004","journal-title":"Ann Neurol"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"3995","DOI":"10.1093\/hmg\/ddq314","article-title":"Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies","volume":"19","author":"YM Chan","year":"2010","journal-title":"Hum Mol Genet"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1007\/s00439-013-1302-7","article-title":"Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes","volume":"132","author":"A Blaeser","year":"2013","journal-title":"Hum Genet"},{"key":"ref34","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":"CA Boito","year":"2005","journal-title":"Arch Neurol"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"757","DOI":"10.7863\/ultra.32.5.757","article-title":"Cardiac characterization of mdx mice using high-resolution doppler echocardiography","volume":"32","author":"A Fayssoil","year":"2013","journal-title":"J Ultrasound Med"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1161\/CIRCRESAHA.107.162982","article-title":"Prevention of dystrophin-deficient cardiomyopathy in twenty-one-month-old carrier mice by mosaic dystrophin expression or complementary dystrophin\/utrophin expression","volume":"102","author":"B Bostick","year":"2008","journal-title":"Circ Res"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0164187","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,14]],"date-time":"2019-09-14T05:47:03Z","timestamp":1568440023000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0164187"}},"subtitle":[],"editor":[{"given":"Atsushi","family":"Asakura","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2016,10,6]]},"references-count":36,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2016,10,6]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0164187","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10,6]]}}}