Shuxian Lu, Zhaojie Lyu, Zhihao Wang, Yao Kou, Cong Liu, Shengyue Li, Mengyan Hu, Hongjie Zhu, Wenxing Wang, Ce Zhang, Yung-Shu Kuan, Yi-Wen Liu, Jianming Chen, Jing Tian
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 with neurological disorders, but no myoglobinuria were identified in an adult-onset syndromic myasthenia family...
2021: Theranostics