Article
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Theranostics - 1 Jan 2021
Lu Shuxian, Lyu Zhaojie, Wang Zhihao, Kou Yao, Liu Cong, Li Shengyue, Hu Mengyan, Zhu Hongjie, Wang Wenxing, Zhang Ce, Kuan Yung-Shu, Liu Yi-Wen, Chen Jianming, Tian Jing
Abstract excerpt
Lipin 1 is an intracellular protein acting as a phosphatidic acid phosphohydrolase enzyme controlling lipid metabolism. Human recessive mutations in LPIN1 cause recurrent, early-onset myoglobinuria, a condition normally associated with muscle pain and weakness. Whether and how lipin 1 deficiency in humans leads to peripheral neuropathy is yet unclear. Herein, two novel compound heterozygous mutations in LPIN1...
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