{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T20:52:46Z","timestamp":1773953566840,"version":"3.50.1"},"reference-count":5,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,7,4]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>We present a case report about a Moroccan 3-year-old girl, with an intermediate phenotype of muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 form. We performed clinical and instrumental evaluation, muscle biopsy, genetic screening of 59 genes for different cerebral malformations, follow-up and review of literature. After investigations, we identified an intermediate new phenotype between the severe and mild form, characterised by significant malformations of the cortex with myopatic symptoms, this increases the genotype\u2013phenotype correlation knowledge about POMGNT2 gene mutations. New homozygous missense mutation on POMGNT2 (c.511 G&gt;A, p.Asp171Asn, rs768063378) was detected.<\/jats:p>","DOI":"10.1136\/bcr-2021-242358","type":"journal-article","created":{"date-parts":[[2021,7,22]],"date-time":"2021-07-22T10:47:03Z","timestamp":1626950823000},"page":"e242358","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["New phenotype caused by POMGNT2 mutations"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6585-8807","authenticated-orcid":false,"given":"Marco","family":"Cassone","sequence":"first","affiliation":[{"name":"Pediatrics and Neonatology Department, Ospedale Maggiore di Modica, Nino Baglieri, ASP Ragusa, Ragusa, Sicilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9027-343X","authenticated-orcid":false,"given":"Chiara","family":"Fiorillo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Disease Unit, DINOGMI, University of Genova, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, IRCCS G.Gaslini, Genova, Italy"},{"name":"Department of Neurology, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Vitali","sequence":"additional","affiliation":[{"name":"Pediatrics and Neonatology Department, Ospedale Maggiore di Modica, Nino Baglieri, ASP Ragusa, Ragusa, Sicilia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,7,22]]},"reference":[{"key":"2025082804354901000_14.7.e242358.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.009"},{"key":"2025082804354901000_14.7.e242358.2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000033"},{"key":"2025082804354901000_14.7.e242358.3","unstructured":"Dubowitz V , Sewry C , Oldfors A . Muscle biopsy: a practical approach. 4 edn ebook, 2013."},{"key":"2025082804354901000_14.7.e242358.4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082804354901000_14.7.e242358.5","doi-asserted-by":"publisher","DOI":"10.1126\/science.1239951"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-242358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:35:58Z","timestamp":1756380958000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-242358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":5,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7,22]]},"published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1136\/bcr-2021-242358"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-242358","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}