1. de Winter, Josine M, Bouman, Karlijn, Strom, Joshua, Voermans, Nicol C, Ottenheijm, Coen A C. 2022. KBTBD13 is a novel cardiomyopathy gene. In Human mutation, 43, 1860-1865. doi:10.1002/humu.24499. https://pubmed.ncbi.nlm.nih.gov/36335629/
2. Ogasawara, Masashi, Nishino, Ichizo. 2021. A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy. In Neuromuscular disorders : NMD, 31, 968-977. doi:10.1016/j.nmd.2021.08.015. https://pubmed.ncbi.nlm.nih.gov/34627702/
3. Jungbluth, Heinz, Voermans, Nicol C. . Congenital myopathies: not only a paediatric topic. In Current opinion in neurology, 29, 642-50. doi:10.1097/WCO.0000000000000372. https://pubmed.ncbi.nlm.nih.gov/27538056/
4. Sambuughin, Nyamkhishig, Yau, Kyle S, Olivé, Montse, Laing, Nigel G, Goldfarb, Lev G. 2010. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. In American journal of human genetics, 87, 842-7. doi:10.1016/j.ajhg.2010.10.020. https://pubmed.ncbi.nlm.nih.gov/21109227/
5. van Kleef, Esmee S B, Bouman, Karlijn, Molenaar, Joery P F, Doorduin, Jonne, Voermans, Nicol C. 2024. Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients. In Neurology. Genetics, 10, e200214. doi:10.1212/NXG.0000000000200214. https://pubmed.ncbi.nlm.nih.gov/39651462/
6. Erazo-Torricelli, Ricardo. . [Structural congenital myopathies]. In Revista de neurologia, 57 Suppl 1, S53-64. doi:. https://pubmed.ncbi.nlm.nih.gov/23897157/
智鼠故事 
