Article
A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Pediatric research - 1 Aug 2023
Fan Peng, Yang Kun-Qi, Han Bing, Kong Dan, Yin Wei-Hua, Li Jing-Hui, Yang Zhuo-Xuan, Niu Li-Li, Fu Chun-Sheng, Rong Cheng-Zhen, Lin Ya-Hui, Wang Hu, Zhou Xian-Liang, Gao Ling-Gen, Qin Xiu-Chuan, Tian Tao
Abstract excerpt
BACKGROUND: Sengers syndrome characterized by hypertrophic cardiomyopathy is an extremely rare genetic disorder. Sengers syndrome associated with left ventricular non-compaction (LVNC) has not been described. METHODS: Genetic testing was used to identify candidate AGK variants in the proband. The predicted molecular structures were constructed by protein modeling. Exon skipping caused by the identified splicing...
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