{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T05:54:44Z","timestamp":1775800484528,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,2,23]],"date-time":"2017-02-23T00:00:00Z","timestamp":1487808000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2017,2,23]],"date-time":"2017-02-23T00:00:00Z","timestamp":1487808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions"}],"funder":[{"name":"Deutsche Gesellschaft f\u00fcr Muskelkranke - DGM"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle Nerve"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1002\/mus.25485","type":"journal-article","created":{"date-parts":[[2016,11,22]],"date-time":"2016-11-22T12:30:59Z","timestamp":1479817859000},"page":"334-340","source":"Crossref","is-referenced-by-count":23,"title":["Two patients with G<i>MPPB<\/i>\n mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy"],"prefix":"10.1002","volume":"56","author":[{"given":"Federica","family":"Montagnese","sequence":"first","affiliation":[{"name":"Friedrich-Baur Institut, Department of Neurology; Ludwig-Maximilian University; Ziemssenstrasse 1a 80336 Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Klupp","sequence":"additional","affiliation":[{"name":"Section of Diagnostic and Interventional Neuroradiology, Klinikum rechts der Isar; Technische Universit\u00e4t; Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dimitrios C.","family":"Karampinos","sequence":"additional","affiliation":[{"name":"Section of Diagnostic and Interventional Neuroradiology, Klinikum rechts der Isar; Technische Universit\u00e4t; Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[{"name":"CeGaT GmbH; T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"gl\u00e4ser","sequence":"additional","affiliation":[{"name":"Genetikum; Neu-Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7557-0003","authenticated-orcid":false,"given":"Jan S.","family":"Kirschke","sequence":"additional","affiliation":[{"name":"Section of Diagnostic and Interventional Neuroradiology, Klinikum rechts der Isar; Technische Universit\u00e4t; Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[{"name":"Friedrich-Baur Institut, Department of Neurology; Ludwig-Maximilian University; Ziemssenstrasse 1a 80336 Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,2,23]]},"reference":[{"key":"10.1002\/mus.25485-BIB0001|mus25485-cit-0001","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.gde.2011.02.001","article-title":"Dystroglycanopathies: coming into focus","volume":"21","author":"Godfrey","year":"2011","journal-title":"Curr Opin Genet Dev"},{"key":"10.1002\/mus.25485-BIB0002|mus25485-cit-0002","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1242\/bio.012468","article-title":"The evolution of the dystroglycan complex, a major mediator of muscle integrity","volume":"4","author":"Adams","year":"2015","journal-title":"Biol Open"},{"key":"10.1002\/mus.25485-BIB0003|mus25485-cit-0003","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1002\/humu.22898","article-title":"GMPPB-associated dystroglycanopathy: emerging common variants with phenotype correlation","volume":"36","author":"Jensen","year":"2015","journal-title":"Hum Mutat"},{"key":"10.1002\/mus.25485-BIB0004|mus25485-cit-0004","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ajhg.2013.05.009","article-title":"Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of \u03b1-dystroglycan","volume":"93","author":"Carss","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1002\/mus.25485-BIB0005|mus25485-cit-0005","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1093\/brain\/awv185","article-title":"Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies","volume":"138","author":"Belaya","year":"2015","journal-title":"Brain"},{"key":"10.1002\/mus.25485-BIB0006|mus25485-cit-0006","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1212\/WNL.0000000000001440","article-title":"Intrafamilial variability in GMPPB-associated dystroglycanopathy: broadening of the phenotype","volume":"84","author":"Bharucha-Goebel","year":"2015","journal-title":"Neurology"},{"key":"10.1002\/mus.25485-BIB0007|mus25485-cit-0007","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1093\/brain\/awv013","article-title":"Expanding the phenotype of GMPPB mutations","volume":"138","author":"Cabrera-Serrano","year":"2015","journal-title":"Brain"},{"key":"10.1002\/mus.25485-BIB0008|mus25485-cit-0008","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.brainres.2014.04.028","article-title":"Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations","volume":"1575","author":"Raphael","year":"2014","journal-title":"Brain Res"},{"key":"10.1002\/mus.25485-BIB0009|mus25485-cit-0009","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1002\/mrm.22578","article-title":"Dual-echo Dixon imaging with flexible choice of echo times","volume":"65","author":"Eggers","year":"2011","journal-title":"Magn Reson Med"},{"key":"10.1002\/mus.25485-BIB0010|mus25485-cit-0010","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/nrendo.2014.139","article-title":"Gynaecomastia--pathophysiology","volume":"10","author":"Narula","year":"2014","journal-title":"diagnosis and treatment Nat Rev Endocrinol"},{"key":"10.1002\/mus.25485-BIB0011|mus25485-cit-0011","doi-asserted-by":"crossref","first-page":"3683","DOI":"10.1242\/jcs.070680","article-title":"Dystroglycan controls signaling of multiple hormones through modulation of STAT5 activity","volume":"123","author":"Leonoudakis","year":"2010","journal-title":"J Cell Sci"},{"key":"10.1002\/mus.25485-BIB0012|mus25485-cit-0012","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s004210050662","article-title":"Significance of peripheral afferent input to the alpha-motoneurone pool for enhancement of tremor during an isometric fatiguing contraction","volume":"82","author":"Cresswell","year":"2000","journal-title":"Eur J Appl Physiol"},{"key":"10.1002\/mus.25485-BIB0013|mus25485-cit-0013","volume-title":"Neuromuscular transmission defect","author":"Oh","year":"1988"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.25485","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/mus.25485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,5]],"date-time":"2021-07-05T04:37:28Z","timestamp":1625459848000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.25485"}},"subtitle":["<i>GMPPB<\/i>\n Dystroglycanopathy"],"short-title":[],"issued":{"date-parts":[[2017,2,23]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,8]]}},"URL":"https:\/\/doi.org\/10.1002\/mus.25485","archive":["Portico"],"relation":{},"ISSN":["0148-639X"],"issn-type":[{"value":"0148-639X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2,23]]}}}