Journal article
COL4A2 ‐Related Disorder Presenting in Adulthood With Rhabdomyolysis
Abstract
The alpha 1 and 2 chains of type IV collagen, encoded by the COL4A1 (MIM 120130) and COL4A2 (MIM 120090) respectively, play essential roles in the vascular basement membranes. Pathogenic variants in COL4A1/ COL4A2 are associated with autosomal dominant cerebral angiopathies. The clinical manifestations of COL4A1/COL4A2-related disorders include: aneurysms, intracerebral hemorrhage, polymicrogyria, porencephaly, heterotopia, periventricular …
Authors
Olarewaju BA; Tejon J; Shurrab S; Chen A; Shamoun F; Smith BE; Osundiji MA
Journal
American Journal of Medical Genetics Part A, Vol. 197, No. 4,
Publisher
Wiley
Publication Date
4 2025
DOI
10.1002/ajmg.a.63965
ISSN
1552-4825