1. Nogales-Gadea, Gisela, Brull, Astrid, Santalla, Alfredo, de Luna, Noemi, Pinós, Tomàs. 2015. McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. In Human mutation, 36, 669-78. doi:10.1002/humu.22806. https://pubmed.ncbi.nlm.nih.gov/25914343/
2. Kedra, D, Seroussi, E, Fransson, I, Mehlin, H, Dumanski, J. . The germinal center kinase gene and a novel CDC25-like gene are located in the vicinity of the PYGM gene on 11q13. In Human genetics, 100, 611-9. doi:. https://pubmed.ncbi.nlm.nih.gov/9341881/
3. Cerrada, Victoria, García-Consuegra, Inés, Arenas, Joaquín, Gallardo, M Esther. 2023. Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene. In Biomedicines, 11, . doi:10.3390/biomedicines11092434. https://pubmed.ncbi.nlm.nih.gov/37760875/
4. Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Delague, Valérie, Urtizberea, J Andoni. . A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. In Journal of neuromuscular diseases, 9, 193-210. doi:10.3233/JND-210652. https://pubmed.ncbi.nlm.nih.gov/34602496/
5. Iacono, Salvatore, Lupica, Antonino, Di Stefano, Vincenzo, Borgione, Eugenia, Brighina, Filippo. 2022. A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease. In Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 41, 37-40. doi:10.36185/2532-1900-067. https://pubmed.ncbi.nlm.nih.gov/35465342/
6. Chéraud, Chrystel, Froissart, Roseline, Lannes, Béatrice, Echaniz-Laguna, Andoni. 2017. Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. In Muscle & nerve, 57, 157-160. doi:10.1002/mus.25588. https://pubmed.ncbi.nlm.nih.gov/28120463/
7. Thomas-Wilson, Amanda, Dharmadhikari, Avinash V, Heymann, Jonas J, Naini, Ali B, Ganapathi, Mythily. 2022. Whole-exome sequencing detects PYGM variants in two adults with McArdle disease. In Cold Spring Harbor molecular case studies, 8, . doi:10.1101/mcs.a006173. https://pubmed.ncbi.nlm.nih.gov/35022222/
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