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