Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy

Janssen, Soeren; Erbe, Leoni S.; Kneifel, Moritz; Vorgerd, Matthias; Doering, Kristina; Lubieniecki, Krzysztof P.; Lubieniecka, Joanna M.; Gerding, Wanda M.; Casadei, Nicolas; Guettsches, Anne-Katrin; Heyer, Christoph; Luecke, Thomas; Nguyen, Hoa Huu Phuc; Koehler, Cornelia; Hoffjan, Sabine

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy

Autor(en):

Janssen, Soeren; Erbe, Leoni S.; Kneifel, Moritz; Vorgerd, Matthias; Doering, Kristina; Lubieniecki, Krzysztof P.; Lubieniecka, Joanna M.; Gerding, Wanda M.; Casadei, Nicolas; Guettsches, Anne-Katrin; Heyer, Christoph; Luecke, Thomas; Nguyen, Hoa Huu Phuc; Koehler, Cornelia; Hoffjan, Sabine

Tübinger Autor(en):

Casadei, Nicolas

Erschienen in:

International Journal of Molecular Sciences (2024), Bd. 25, H. 19

Verlagsangabe:

Basel : Mdpi

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.3390/ijms251910867

ISSN:

1661-6596