{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:37:31Z","timestamp":1786649851372,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.4103\/aian.aian_944_21","type":"journal-article","created":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T09:22:24Z","timestamp":1650878544000},"page":"551-553","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Congenital Muscular Dystrophy due to POMGNT1 Mutation Presenting as Cardioembolic Stroke"],"prefix":"10.4103","volume":"25","author":[{"given":"Mary","family":"Iype","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omana Surendran","family":"Mithran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anitha","family":"Ayyappan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathew","family":"Iype","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-63-20240828","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1161\/01.STR.18.4.805","article-title":"Frequency of cerebral infarction in patients with inherited neuromuscular diseases","volume":"18","author":"Biller","year":"1987","journal-title":"Stroke"},{"key":"R2-63-20240828","first-page":"928","article-title":"Incidence of cerebral infarction in Duchenne muscular dystrophy","volume":"19","author":"Hanajima","year":"1996","journal-title":"Muscle Nerve"},{"key":"R3-63-20240828","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":"Pane","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"R4-63-20240828","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1212\/01.WNL.0000115386.28769.65","article-title":"POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in \u03b1-DG","volume":"62","author":"Kim","year":"2004","journal-title":"Neurology"},{"key":"R5-63-20240828","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/jmg.2005.031963","article-title":"POMT2 mutations cause \u03b1-dystroglycan hypoglycosylation and Walker-Warburg syndrome","volume":"42","author":"van Reeuwijk","year":"2005","journal-title":"J Med Genet"},{"key":"R6-63-20240828","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1111\/j.1365-2613.2008.00599.x","article-title":"A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: A possible role to suppress cell proliferation","volume":"89","author":"Yamamoto","year":"2008","journal-title":"Int J Exp Path"},{"key":"R7-63-20240828","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1212\/01.WNL.0000052996.14099.DC","article-title":"FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts","volume":"60","author":"Topaloglu","year":"2003","journal-title":"Neurology"},{"key":"R8-63-20240828","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 \u03b1-dystroglycan","volume":"12","author":"Longman","year":"2003","journal-title":"Hum Mol Genet"},{"key":"R9-63-20240828","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1001\/archneurol.2007.2","article-title":"Mild POMGnT1 mutations underlie a nNvel limb-girdle muscular dystrophy variant","volume":"65","author":"Clement","year":"2008","journal-title":"Arch Neurol"},{"key":"R10-63-20240828","doi-asserted-by":"crossref","first-page":"7056","DOI":"10.1038\/s41598-017-07349-8","article-title":"Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing","volume":"7","author":"Fu","year":"2017","journal-title":"Sci Rep"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_944_21","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T18:59:09Z","timestamp":1786647549000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_944_21"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_944_21","relation":{},"ISSN":["0972-2327"],"issn-type":[{"value":"0972-2327","type":"print"}],"subject":[],"published":{"date-parts":[[2022,5]]}}}