1. El Kadiri, Youssef, Ratbi, Ilham, Sefiani, Abdelaziz, Lyahyai, Jaber. 2022. Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature. In BMC neurology, 22, 292. doi:10.1186/s12883-022-02822-y. https://pubmed.ncbi.nlm.nih.gov/35932018/
2. Engel, Andrew G, Shen, Xin-Ming, Selcen, Duygu, Sine, Steven M. . Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. In The Lancet. Neurology, 14, 420-34. doi:10.1016/S1474-4422(14)70201-7. https://pubmed.ncbi.nlm.nih.gov/25792100/
3. Luo, Xiaona, Wang, Chunmei, Lin, Longlong, Zeng, Fanyi, Chen, Yucai. 2021. Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene. In Frontiers in pediatrics, 9, 679342. doi:10.3389/fped.2021.679342. https://pubmed.ncbi.nlm.nih.gov/34912755/
4. Finsterer, Josef. 2019. Congenital myasthenic syndromes. In Orphanet journal of rare diseases, 14, 57. doi:10.1186/s13023-019-1025-5. https://pubmed.ncbi.nlm.nih.gov/30808424/
5. Kediha, M I, Tazir, M, Magnouche, C, Eymard, B, Ali Pacha, L. 2023. Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families. In Revue neurologique, 179, 570-575. doi:10.1016/j.neurol.2022.09.008. https://pubmed.ncbi.nlm.nih.gov/36764859/
6. Eshaghian, Tina, Rabbani, Bahareh, Badv, Reza Shervin, Iyadurai, Stanley, Mahdieh, Nejat. 2023. COLQ-related congenital myasthenic syndrome: An integrative view. In Neurogenetics, 24, 189-200. doi:10.1007/s10048-023-00719-7. https://pubmed.ncbi.nlm.nih.gov/37231228/
7. Ohno, Kinji, Ohkawara, Bisei, Shen, Xin-Ming, Selcen, Duygu, Engel, Andrew G. 2023. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24043730. https://pubmed.ncbi.nlm.nih.gov/36835142/
8. Zhang, Qing-Lin, Xu, Ming-Jun, Wang, Tian-Long, Lai, Fancai, Zheng, Xiao-Chun. . Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency. In Journal of integrative neuroscience, 17, 439-446. doi:10.3233/JIN-180080. https://pubmed.ncbi.nlm.nih.gov/29630557/
9. Zhang, Qiting, Sha, Qianqian, Qiao, Kai, Gong, Xiaohui, Du, Ailian. 2023. Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect. In Heliyon, 9, e13272. doi:10.1016/j.heliyon.2023.e13272. https://pubmed.ncbi.nlm.nih.gov/36798769/