Research Paper: 

2016 Kollmann

Date Published : 

09/13/2016

Summary

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

Excerpt

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
Download

Gould Syndrome Foundation

We are a registered 501(c)3 Nonprofit dedicated to providing hope and help to children and adults with Gould Syndrome; affecting COL4A1 and COL4A2 genes.
Gould Syndrome Foundation badge
© Copyright 2021by Gould Syndrome Foundation - Website by Selser Media