{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:33:47Z","timestamp":1790278427247,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,9,13]],"date-time":"2012-09-13T00:00:00Z","timestamp":1347494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003725","name":"Korea Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Korean Government","award":["KRF-2008-313-E00499"],"award-info":[{"award-number":["KRF-2008-313-E00499"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction:<\/jats:title><jats:p>Limb\u2010girdle myasthenia with tubular aggregates (LGM with TAs) is a subtype of congenital myasthenic syndrome caused by recessive mutations of glutamine\u2013fructose\u20106\u2010phosphate transaminase 1 (<jats:italic>GFPT1<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Clinical and neurophysiological assessment was made in a Korean boy who had proximal limb muscle weakness. Findings suggested a diagnosis of congenital myasthenic syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Muscle biopsy disclosed numerous TAs in muscle fibers, and DNA sequence analysis disclosed 2 novel missense mutations (p.E256Q and p.M499T) in <jats:italic>GFPT1<\/jats:italic>. Treatment with oral cholinesterase inhibitors produced a dramatic improvement in muscle strength.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>GFPT1 is the key enzyme in the hexosamine biosynthesis pathway, and mutations in <jats:italic>GFPT1<\/jats:italic> cause defective glycosylation in the proteins of the neuromuscular junction. Identification of LGM with TAs among patients with congenital myasthenic syndrome is important because treatment with cholinesterase inhibitors can produce symptomatic improvement. Muscle Nerve 46: 599\u2013602, 2012<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.23451","type":"journal-article","created":{"date-parts":[[2012,5,7]],"date-time":"2012-05-07T12:07:21Z","timestamp":1336392441000},"page":"600-604","source":"Crossref","is-referenced-by-count":36,"title":["Limb\u2010girdle myasthenia with tubular aggregates associated with novel <i>GFPT1<\/i> mutations"],"prefix":"10.1002","volume":"46","author":[{"given":"So\u2010Young","family":"Huh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyang\u2010Sook","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ho\u2010Jung","family":"Jang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeong\u2010Eun","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dae\u2010Seong","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,13]]},"reference":[{"key":"e_1_2_5_2_2","article-title":"Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations","author":"Guergueltcheva V","journal-title":"J Neurol"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.008"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00137-2"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060090055014"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.10.005"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2008.584"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.73.011303.074043"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.00390.2011"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199705)20:5<599::AID-MUS9>3.0.CO;2-4"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23451","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23451","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.23451","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T03:52:35Z","timestamp":1696909955000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.23451"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,13]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/mus.23451"],"URL":"https:\/\/doi.org\/10.1002\/mus.23451","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,13]]}}}