Article
Homozygous G650del nexilin variant causes cardiomyopathy in mice.
JCI insight - 20 Aug 2020
Liu Canzhao, Spinozzi Simone, Feng Wei, Chen Ze'e, Zhang Lunfeng, Zhu Siting, Wu Tongbin, Fang Xi, Ouyang Kunfu, Evans Sylvia M, Chen Ju
Abstract excerpt
Nexilin (NEXN) was recently identified as a component of the junctional membrane complex required for development and maintenance of cardiac T-tubules. Loss of Nexn in mice leads to a rapidly progressive dilated cardiomyopathy (DCM) and premature death. A 3 bp deletion (1948-1950del) leading to loss of the glycine in position 650 (G650del) is classified as a variant of uncertain significance in humans and may...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.