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Article

COL4A2 -Related Disorder Presenting in Adulthood With Rhabdomyolysis.

American journal of medical genetics. Part A - 1 Apr 2025

Olarewaju Bukola A, Tejon Judy, Shurrab Shaymaa, Chen Alicia, Shamoun Fadi, Smith Benn E, Osundiji Mayowa A

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39679724
DOI: 10.1002/ajmg.a.63965

Genes

COL4A2
COL4A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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