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Journal: Int. J. Mol. Sci., 2024
Volume: 25
Number: 10867
10867
Article: Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy
Authors: by Sören Janßen, Leoni S. Erbe, Moritz Kneifel, Matthias Vorgerd, Kristina Döring, Krzysztof P. Lubieniecki, Joanna M. Lubieniecka, Wanda M. Gerding, Nicolas Casadei, Anne-Katrin Güttsches, Christoph Heyer, Thomas Lücke, Hoa Huu Phuc Nguyen, Cornelia Köhler and Sabine Hoffjan
Link: https://www.mdpi.com/1422-0067/25/19/10867

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