{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:24:55Z","timestamp":1787775895772,"version":"build-2784847793"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Dystroglycanopathy is a type of congenital muscular dystrophy caused by mutations causing defective glycosylation of a dystrophin-associated glycoprotein, dystroglycan and as such is a very rare disease entity. We are reporting a 1-year-old girl child with dystroglycanopathy who presented with motor predominant developmental delay. She had motor development quotient of 52, mental development quotient of 75, facial dysmorphism, mixed hypotonia with a global decrease in muscle power, and areflexia. Serum CPK level was elevated; magnetic resonance imaging brain revealed multiple intraparenchymal cysts in the cerebellum with disorganized folia. Next-generation sequencing revealed a homozygous missense mutation in exon 3 of the ISPD gene (p.Gln215His; ENST00000407010) consistent with the diagnosis of dystroglycanopathy muscle-eye-brain disease. Genetic counseling and prenatal diagnosis for subsequent pregnancies were advised for the family, apart from appropriate rehabilitation for the child.<\/jats:p>","DOI":"10.4103\/abr.abr_141_19","type":"journal-article","created":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T05:50:57Z","timestamp":1606542657000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha"],"prefix":"10.4103","volume":"9","author":[{"given":"Sebaranjan","family":"Biswal","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Kalinga Institute of Medical Sciences, KIIT Deemed to be University, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debasish","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jagarnnath Hospital, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirmal Kumar","family":"Mohakud","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kalinga Institute of Medical Sciences, KIIT Deemed to be University, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kalinga Institute of Medical Sciences, KIIT Deemed to be University, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natabara","family":"Swain","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kalinga Institute of Medical Sciences, KIIT Deemed to be University, Bhubaneswar, Odisha, 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glycosylation of \u03b1-dystroglycan","volume":"44","author":"Roscioli","year":"2012","journal-title":"Nat Genet"},{"key":"R9-20250805","doi-asserted-by":"crossref","first-page":"e14434","DOI":"10.1371\/journal.pone.0014434","article-title":"Transgenic overexpression of LARGE induces \u03b1-dystroglycan hyperglycosylation in skeletal and cardiac muscle","volume":"5","author":"Brockington","year":"2010","journal-title":"PLoS One"}],"container-title":["Advanced Biomedical 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