Article
A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy.
Translational stroke research - 1 Apr 2022
Li Qing, Wang Chengfeng, Li Wei, Zhang Zaiqiang, Wang Shanshan, Wupuer Autongsha, Hu Xiao, Wumaier Kalibinuer, Zhu Yi, Li Hongyan, Yu Wengui
Abstract excerpt
Pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease. We report a novel collagen type IV alpha 1 (COL4A1) gene mutation in a Chinese family with PADMAL. The index case was followed up for 6 years. Neuroimaging, whole-exome sequencing, skin biopsy, and pedigree analysis were performed. She initially presented with minor head injury at age...
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