{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T20:35:07Z","timestamp":1786739707434,"version":"build-2736575974"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Immunocharacterization of congenital muscular dystrophy (CMD) to determine the frequency of various subtypes in a large Indian Cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>This retrospective (2014-2017) study was carried on muscle biopsies of clinically suspected cases of CMD with histological evidence of dystrophy\/myopathic features. Immunohistochemistry (IHC) to antibodies against laminin (\u03b12, \u03b15,\u03b21,\u03b31), Collagen-VI (A1,2,3), and Western blot (WB) for \u03b1-dystroglycan and POMT1 was performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The study included 57 cases, of which 15 cases (26.3%) had mean age at presentation of 3.5 years, M: F = 1.5:1, elevated creatinine kinase (CK) (mean 1657 U\/L), global developmental delay, multiple contractures, abnormal facies, white matter hyperintensities and showed laminin-\u03b12 deficiency (Merosin deficient CMD). In addition, secondary reduction in laminin-\u03b21, over-expression of laminin-\u03b15, and preserved laminin-\u03b31 was noted. Ullrich CMD constituted 11\/57 cases (19.2%) with mean age at presentation of 5.3 years, M: F = 1.2:1 and normal CK. They presented with proximal muscle weakness, soft velvety palms and soles, contractures, and joint hyperextensibility. Collagen-VI (A1,2,3) showed either complete (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 3) or sarcolemmal specific (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 8) loss of staining. Out of the remaining 31 cases, WB for \u03b1-dystroglycan was performed in 17 cases which showed deficiency in seven (12.3%). Three of these in addition revealed secondary partial loss of laminin-\u03b12. WB for POMT1 showed deficiency in a single case clinically diagnosed Walker\u2013Warburg syndrome, who presented with seizures and classical features of pachygyria, lissencephaly, and cerebellar cyst on MRI. Twenty-four cases (42.2%) remained uncharacterized and need genetic evaluation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The study helped in characterizing 57.8% of the proband. Immunotyping helps to direct mutational analysis for targeted genes and offers a potential route for prenatal diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_18_20","type":"journal-article","created":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T07:25:58Z","timestamp":1595489158000},"page":"198-203","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy"],"prefix":"10.4103","volume":"24","author":[{"given":"Radhika","family":"Mhatre","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepha","family":"Sekar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessiena","family":"Ponmalar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhu","family":"Nagappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Preethish-Kumar","family":"Veeramani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seena","family":"Vengalil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nalini","family":"Atchayaram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayathri","family":"Narayanappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R2-16-20240828","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/BF02185752","article-title":"Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy","volume":"97","author":"Mostacciuolo","year":"1996","journal-title":"Hum Genet"},{"key":"R3-16-20240828","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0960-8966(99)00055-3","article-title":"Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden","volume":"10","author":"Darin","year":"2000","journal-title":"Neuromuscul Disord"},{"key":"R4-16-20240828","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/j.nmd.2005.01.009","article-title":"Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan","volume":"15","author":"Matsumoto","year":"2005","journal-title":"Neuromuscul Disord"},{"key":"R5-16-20240828","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1212\/01.wnl.0000271387.10404.4e","article-title":"Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan","volume":"69","author":"Okada","year":"2007","journal-title":"Neurology"},{"key":"R6-16-20240828","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.nmd.2017.06.008","article-title":"Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period","volume":"27","author":"Sframeli","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"R7-16-20240828","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.spen.2011.10.010","article-title":"Congenital muscular dystrophies: A brief review","volume":"18","author":"Bertini","year":"2011","journal-title":"Semin Pediatr Neurol"},{"key":"R8-16-20240828","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1212\/01.wnl.0000284605.27654.5a","article-title":"Diagnosis and etiology of congenital muscular dystrophy","volume":"71","author":"Peat","year":"2008","journal-title":"Neurology"},{"key":"R9-16-20240828","doi-asserted-by":"crossref","first-page":"481","DOI":"10.4103\/0028-3886.121913","article-title":"A large series of immunohistochemically confirmed cases of congenital muscular dystrophy seen over a period of one decade","volume":"61","author":"Nagappa","year":"2013","journal-title":"Neurol India"},{"key":"R10-16-20240828","doi-asserted-by":"crossref","first-page":"111","DOI":"10.4161\/cam.22618","article-title":"Laminin-211 in skeletal muscle function","volume":"7","author":"Holmberg","year":"2013","journal-title":"Cell Adh Migr"},{"key":"R11-16-20240828","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1007\/BF02282889","article-title":"Congenital muscular dystrophy with laminin alpha 2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry","volume":"155","author":"Herrmann","year":"1996","journal-title":"Eur J Pediatr"},{"key":"R12-16-20240828","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/S0960-8966(96)00421-X","article-title":"Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency","volume":"7","author":"Tan","year":"1997","journal-title":"Neuromuscul Disord"},{"key":"R13-16-20240828","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/0960-8966(94)00072-H","article-title":"Expression of laminin subunits in congenital muscular dystrophy","volume":"5","author":"Sewry","year":"1995","journal-title":"Neuromuscul Disord"},{"key":"R14-16-20240828","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s004010050680","article-title":"Immunohistochemical study of merosin-negative congenital muscular dystrophy: Laminin a2 deficiency in skin biopsy","volume":"94","author":"Marbini","year":"1997","journal-title":"Acta Neuropathol"},{"key":"R15-16-20240828","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1080\/15513815.2018.1520944","article-title":"Prenatal diagnosis of merosin-deficient muscular dystrophy","volume":"37","author":"Fadiloglu","year":"2018","journal-title":"Fetal Pediatr Pathol"},{"key":"R16-16-20240828","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.1582-4934.2000.tb00129.x","article-title":"Merosin-deficient congenital muscular dystrophy: Neuropathology case reports","volume":"4","author":"Manole","year":"2000","journal-title":"J Cell Mol Med"},{"key":"R17-16-20240828","first-page":"3525","article-title":"Collagen VI at a glance","volume":"128","author":"Cescon","year":"2015","journal-title":"J Cell Sci"},{"key":"R18-16-20240828","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1590\/S0004-282X2005000500013","article-title":"Ullrich congenital muscular dystrophy and Bethlem myopathy: Clinical and genetic heterogeneity","volume":"63","author":"Reed","year":"2005","journal-title":"Arq Neuropsiquiatr"},{"key":"R19-16-20240828","first-page":"84","article-title":"A heterozygous COL 6A1 glycine substitution that influences cell attachment in fibroblasts causes sarcolemmal-specific collagen VI deficiency (SSCD)","volume":"16","author":"Kawahara","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"R20-16-20240828","doi-asserted-by":"crossref","first-page":"41","DOI":"10.4103\/0028-3886.48820","article-title":"Ullrich congenital muscular dystrophy: Report of nine cases from India","volume":"57","author":"Nalini","year":"2009","journal-title":"Neurol India"},{"key":"R21-16-20240828","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1055\/s-2007-979745","article-title":"Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker\u2013Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy","volume":"26","author":"Voit","year":"1995","journal-title":"Neuropediatrics"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.AIAN_18_20","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T19:31:31Z","timestamp":1786735891000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.AIAN_18_20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_18_20","relation":{},"ISSN":["0972-2327"],"issn-type":[{"value":"0972-2327","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3]]}}}