Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.
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| Title: | Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy. |
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| Authors: | Janßen, Sören1 (AUTHOR) soeren.janssen@rub.de, Erbe, Leoni S.2 (AUTHOR) leoni.erbe@rub.de, Kneifel, Moritz3 (AUTHOR) moritz.kneifel@rub.de, Vorgerd, Matthias3 (AUTHOR) matthias.vorgerd@bergmannsheil.de, Döring, Kristina2 (AUTHOR) kristina.doering@rub.de, Lubieniecki, Krzysztof P.2 (AUTHOR) krzysztof.lubieniecki@ruhr-uni-bochum.de, Lubieniecka, Joanna M.2 (AUTHOR) joanna.lubieniecka@rub.de, Gerding, Wanda M.2 (AUTHOR) wanda.gerding@rub.de, Casadei, Nicolas4,5 (AUTHOR) nicolas.casadei@med.uni-tuebingen.de, Güttsches, Anne-Katrin3 (AUTHOR), Heyer, Christoph6 (AUTHOR) christoph.heyer@rub.de, Lücke, Thomas1,7 (AUTHOR) thomas.luecke@rub.de, Nguyen, Hoa Huu Phuc2,7 (AUTHOR) huu.nguyen-r7w@rub.de, Köhler, Cornelia1,7 (AUTHOR) cornelia.koehler@kklbo.de, Hoffjan, Sabine2,7 (AUTHOR) sabine.hoffjan@rub.de |
| Source: | International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10867. 15p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 16616596 |
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| DOI: | 10.3390/ijms251910867 |
