{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T17:06:31Z","timestamp":1791911191500,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,4]]},"abstract":"ABSTRACT<\/jats:title>\n \n The alpha 1 and 2 chains of type IV collagen, encoded by the\n COL4A1<\/jats:italic>\n (MIM 120130) and\n COL4A2<\/jats:italic>\n (MIM 120090) respectively, play essential roles in the vascular basement membranes. Pathogenic variants in\n COL4A1<\/jats:italic>\n \/\n COL4A2<\/jats:italic>\n are associated with autosomal dominant cerebral angiopathies. The clinical manifestations of\n COL4A1<\/jats:italic>\n \/\n COL4A2<\/jats:italic>\n \u2010related disorders include: aneurysms, intracerebral hemorrhage, polymicrogyria, porencephaly, heterotopia, periventricular leukomalacia, epilepsy, and neurodevelopmental disorders.\n COL4A1<\/jats:italic>\n pathogenic variants that are in exons 24 and 25 have been associated with hereditary angiopathy, nephropathy, aneurysms, and cramps. The multisystemic phenotypes of\n COL4A1<\/jats:italic>\n \/\n COL4A2<\/jats:italic>\n \u2010related disorders are increasingly being studied. Animal models have suggested that\n COL4A2<\/jats:italic>\n \u2010related disorders may also manifest with a variable combination of multisystemic abnormalities affecting the eyes, muscles, and kidneys. Okano and colleagues recently reported a case of recurrent episodes of rhabdomyolysis in a 2\u2010year\u2010old with\n COL4A1<\/jats:italic>\n \u2010related disorder raising fundamental questions on mechanisms of\n COL4A1<\/jats:italic>\n \/\n COL4A2<\/jats:italic>\n variants in muscle homeostasis. To date, rhabdomyolysis has not been associated with\n COL4A2<\/jats:italic>\n \u2010related disorder in humans. Rhabdomyolysis is a medical emergency, where there is elevated creatine kinase (CK) level in the blood and increased excretion of myoglobin in urine, due to skeletal muscle damage and release of intracytoplasmic proteins into systemic circulation. Rhabdomyolysis is a serious medical condition. It require intensive care management due to an increased risk of some life\u2010threatening complications [including disseminated intravascular coagulation, renal failure, and severe hyperkalemia]. Herein, we report a case of rhabdomyolysis in an adult with\n COL4A2<\/jats:italic>\n \u2010related structural brain malformations (including polymicrogyria and heterotopia).\n <\/jats:p>","DOI":"10.1002\/ajmg.a.63965","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T07:44:52Z","timestamp":1734335092000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["\n COL4A2<\/i>\n <\/scp>\n \u2010Related Disorder Presenting in Adulthood With Rhabdomyolysis"],"prefix":"10.1002","volume":"197","author":[{"given":"Bukola A.","family":"Olarewaju","sequence":"first","affiliation":[{"name":"School of Science and Engineering University of Dundee Dundee UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judy","family":"Tejon","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic Scottsdale Arizona 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