{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:59:05Z","timestamp":1761310745938},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,4,12]],"date-time":"2012-04-12T00:00:00Z","timestamp":1334188800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> Congenital muscular dystrophies (CMD) with hypoglycosylated \u03b1\u2010dystroglycan due to <jats:italic>POMT1<\/jats:italic> mutations are associated with clinical phenotypes that vary in severity.<jats:italic>Methods:<\/jats:italic> We describe a patient with congenital hypotonia, generalized weakness, elevated creatine kinase (CK), and normal brain imaging. <jats:italic>Results:<\/jats:italic> Histochemical analysis of the index case's muscle showed deficiency of glycosylated \u03b1\u2010dystroglycan and secondary merosin deficiency. Genetic testing revealed a novel mutation in exon 20 of the <jats:italic>POMT1<\/jats:italic> gene. <jats:italic>Conclusions:<\/jats:italic> Our patient's milder form of CMD adds to the emerging evidence of an expanding phenotype caused by <jats:italic>POMT1<\/jats:italic> mutations. The histopathological findings of the muscle biopsy in this case support the need for careful clinical, genetic, and histochemical diagnostic interpretation. Muscle Nerve 45: 752\u2013755, 2012<\/jats:p>","DOI":"10.1002\/mus.23274","type":"journal-article","created":{"date-parts":[[2011,12,8]],"date-time":"2011-12-08T12:10:04Z","timestamp":1323346204000},"page":"752-755","source":"Crossref","is-referenced-by-count":5,"title":["Milder phenotype of congenital muscular dystrophy in a novel <i>POMT1<\/i> mutation"],"prefix":"10.1002","volume":"45","author":[{"given":"Samiah A.","family":"Al\u2010Zaidy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berivan","family":"Baskin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"Hawkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter N.","family":"Ray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiri","family":"Vajsar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,4,12]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/342975"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-29"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.014"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm212"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20313"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-7460"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/324412"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000115386.28769.65"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23274","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.23274","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.23274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T02:41:21Z","timestamp":1697510481000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.23274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,12]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1002\/mus.23274"],"URL":"https:\/\/doi.org\/10.1002\/mus.23274","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,12]]}}}