{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T03:42:46Z","timestamp":1782790966369,"version":"3.54.5"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T00:00:00Z","timestamp":1728864000000},"content-version":"vor","delay-in-days":287,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2023YFC2706301"],"award-info":[{"award-number":["2023YFC2706301"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703600"],"award-info":[{"award-number":["2022YFC2703600"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p><jats:bold>Background<\/jats:bold>: Collagen VI\u2010related disorder (COLVI\u2010RD) is one of the most common congenital muscular dystrophies. However, data is limited in China.<\/jats:p><jats:p><jats:bold>Methods<\/jats:bold>: We conducted a retrospective study at two tertiary centers. Clinical presentations, lab findings (including serum creatine kinase levels), muscle biopsy, and molecular test results for patients diagnosed with definite COLVI\u2010RD were collected.<\/jats:p><jats:p><jats:bold>Results<\/jats:bold>: A total of 82 patients were enrolled in the study, including 4 with early\u2013severe Ullrich congenital muscular dystrophy (E\u2013S UCMD) (4.8%), 45 with moderate\u2013progressive Ullrich congenital muscular dystrophy (M\u2013P UCMD, 54.9%), 19 with mild UCMD (23.2%), and 14 with Bethlem myopathy (BM, 17.1%). Feeding difficulty, DDH, and neurogenic damage were more common in E\u2013S and M\u2013P UCMD, while contracture of distal joints, atrophic scars, and hyperkeratosis was more prominent in mild UCMD and BM. Seventy patients harbored 64 pathogenic mutations in COLVI\u2010related genes: 28 patients in COL6A1 gene, 25 patients in the COL6A2 gene, and 17 patients in the COL6A3 gene, among which 33 mutations were novel. Missense and splicing mutations were predominant for COL6A1 and COL6A3 genes, which were mostly located in N\u2010terminus of THD, in a dominant pattern, while mutations in the COL6A2 gene were much more polymorphic, which spread throughout the whole length of the gene, in a dominant or recessive pattern. Immunofluorescence dual labeling of Collagen VI\/IV in 44 patients showed complete deficiency of Collagen VI in 10 patients (22.7%), sarcolemma\u2010specific Collagen VI deficiency in 25 patients (56.8%), and normal Collagen VI staining in 9 patients (20.5%).<\/jats:p><jats:p><jats:bold>Conclusion<\/jats:bold>: Our study reported the largest cohort of COLVI\u2010RD in China, which showed M\u2013P UCMD was the most common phenotype, followed by mild UCMD and BM. We identified 30 novel mutations and expanded the genetic spectrum. Missense and splicing mutations were predominant for COL6A1 and COL6A3 genes, while mutations in the COL6A2 gene were much more polymorphic. For severe phenotypes, most mutations are sporadic, while some are AD or recessive inherited. For milder phenotypes, sporadic and AD inherited were both common, while only 1 patient with recessive mutations was observed.<\/jats:p>","DOI":"10.1155\/2024\/3503253","type":"journal-article","created":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T10:49:47Z","timestamp":1728902987000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical, Pathologic, and Genetic Spectrum of Collagen VI\u2013Related Disorder in China\u2014A Retrospective Observational Multicenter 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