Research Paper: 

2016 Kollmann

Date Published : 

09/13/2016

Summary

‘De novo’ Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

Abstract

Collagen IV-related diseases affect the basement membrane and can be caused by COL4A1 or COL4A2 gene mutations. The phenotypic expression seems to be similar in both and encompass porencephaly, small-vessel disease, ocular involvement, peripheral myopathy, and kidney disease.

‘De novo’ Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms
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