1. Zhang, Gang, Xu, Min, Huang, Tingting, Chen, Wangyang, Chang, Xingzhi. 2021. Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review. In BMC pediatrics, 21, 209. doi:10.1186/s12887-021-02656-6. https://pubmed.ncbi.nlm.nih.gov/33926407/
2. Yildirim, Mirac, Balasar, Ozgur, Kose, Engin, Dogan, Melih Timucin. . Mild congenital myopathy due to a novel variation in SPEG gene. In Intractable & rare diseases research, 10, 220-222. doi:10.5582/irdr.2021.01034. https://pubmed.ncbi.nlm.nih.gov/34466346/
3. Luo, Shiyu, Rosen, Samantha M, Li, Qifei, Agrawal, Pankaj B. 2021. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease. In International journal of molecular sciences, 22, . doi:10.3390/ijms22115732. https://pubmed.ncbi.nlm.nih.gov/34072258/
4. Lee, Chang Seok, Jung, Sung Yun, Yee, Rachel Sue Zhen, Rodney, George G, Hamilton, Susan L. 2023. Speg interactions that regulate the stability of excitation-contraction coupling protein complexes in triads and dyads. In Communications biology, 6, 942. doi:10.1038/s42003-023-05330-y. https://pubmed.ncbi.nlm.nih.gov/37709832/
5. Luo, Shiyu, Li, Qifei, Lin, Jasmine, Kazerounian, Shideh, Agrawal, Pankaj B. . SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins. In Human molecular genetics, 29, 3882-3891. doi:10.1093/hmg/ddaa276. https://pubmed.ncbi.nlm.nih.gov/33355670/
6. Huntoon, Virginia, Widrick, Jeffrey J, Sanchez, Colline, Jacquemond, Vincent, Agrawal, Pankaj B. . SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling. In Human molecular genetics, 27, 1608-1617. doi:10.1093/hmg/ddy068. https://pubmed.ncbi.nlm.nih.gov/29474540/
7. Espinosa, Karla G, Geissah, Salma, Groom, Linda, Zhao, Mo, Dowling, James J. 2022. Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. In Disease models & mechanisms, 15, . doi:10.1242/dmm.049437. https://pubmed.ncbi.nlm.nih.gov/35293586/
智鼠故事 
