{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:45:30Z","timestamp":1791049530147,"version":"4.1.0"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:p>\n                    Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in\n                    <jats:italic toggle=\"yes\">COL6A<\/jats:italic>\n                    genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to have pathogenic variants in\n                    <jats:italic toggle=\"yes\">COL12A1<\/jats:italic>\n                    gene thus, expanding the phenotypic spectrum of\n                    <jats:italic toggle=\"yes\">COL12A1<\/jats:italic>\n                    -related myopathy.\n                  <\/jats:p>","DOI":"10.4103\/0028-3886.391402","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T11:04:17Z","timestamp":1704279857000},"page":"1257-1259","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy"],"prefix":"10.4103","volume":"71","author":[{"given":"Hansashree","family":"Padmanabha","sequence":"first","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gautham","family":"Arunachal","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratik","family":"Kishore","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P Praveen","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pooja","family":"Mailankody","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rohan R","family":"Mahale","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saraswati","family":"Nashi","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PS","family":"Mathuranath","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadanandavalli R","family":"Chandra","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Near Diary Circle, Hosur Road, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,12,20]]},"reference":[{"key":"R2-20260511","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1093\/hmg\/ddt637","article-title":"Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy","volume":"23","author":"Hicks","year":"2014","journal-title":"Hum Mol Genet"},{"key":"R3-20260511","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1093\/hmg\/ddt627","article-title":"Recessive and dominant mutations in COL12A1 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fibroblasts","volume":"57","author":"Witting","year":"2018","journal-title":"Muscle Nerve"},{"key":"R7-20260511","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1111\/cge.13534","article-title":"Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy","volume":"95","author":"Jezela-Stanek","year":"2019","journal-title":"Clin Genet"},{"key":"R8-20260511","doi-asserted-by":"crossref","first-page":"1980","DOI":"10.1002\/acn3.50882","article-title":"Dominant collagen XII mutations cause a distal myopathy","volume":"6","author":"Mohassel","year":"2019","journal-title":"Ann Clin Transl Neurol"},{"key":"R9-20260511","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1186\/s40246-016-0083-1","article-title":"Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta","volume":"10","author":"Ho Duy","year":"2016","journal-title":"Hum Genomics"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.391402","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T16:25:19Z","timestamp":1786724719000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.391402"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.391402","relation":{},"ISSN":["0028-3886","1998-4022"],"issn-type":[{"value":"0028-3886","type":"print"},{"value":"1998-4022","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"2019-11-27","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-05","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}