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

dc.contributor.author	Casadei, Nicolas
dc.date.accessioned	2025-05-30T05:55:22Z
dc.date.available	2025-05-30T05:55:22Z
dc.date.issued	2024
dc.identifier.issn	1661-6596
dc.identifier.uri	http://hdl.handle.net/10900/165996
dc.language.iso	en	en
dc.publisher	Basel : Mdpi	de_DE
dc.relation.uri	http://dx.doi.org/10.3390/ijms251910867
dc.subject.ddc	570	de_DE
dc.subject.ddc	540	de_DE
dc.title	Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20250203000000_01073
utue.personen.roh	Janssen, Soeren
utue.personen.roh	Erbe, Leoni S.
utue.personen.roh	Kneifel, Moritz
utue.personen.roh	Vorgerd, Matthias
utue.personen.roh	Doering, Kristina
utue.personen.roh	Lubieniecki, Krzysztof P.
utue.personen.roh	Lubieniecka, Joanna M.
utue.personen.roh	Gerding, Wanda M.
utue.personen.roh	Casadei, Nicolas
utue.personen.roh	Guettsches, Anne-Katrin
utue.personen.roh	Heyer, Christoph
utue.personen.roh	Luecke, Thomas
utue.personen.roh	Nguyen, Hoa Huu Phuc
utue.personen.roh	Koehler, Cornelia
utue.personen.roh	Hoffjan, Sabine
dcterms.isPartOf.ZSTitelID	International Journal of Molecular Sciences	de_DE
dcterms.isPartOf.ZS-Issue	19	de_DE
dcterms.isPartOf.ZS-Volume	25	de_DE
utue.fakultaet	04 Medizinische Fakultät
utue.fakultaet	07 Mathematisch-Naturwissenschaftliche Fakultät
utue.fakultaet	Sonstige