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Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.
Janßen S, Erbe LS, Kneifel M, Vorgerd M, Döring K, Lubieniecki KP, Lubieniecka JM, Gerding WM, Casadei N, Güttsches AK, Heyer C, Lücke T, Nguyen HHP, Köhler C, Hoffjan S. Janßen S, et al. Among authors: guttsches ak. Int J Mol Sci. 2024 Oct 9;25(19):10867. doi: 10.3390/ijms251910867. Int J Mol Sci. 2024. PMID: 39409197 Free PMC article.
Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI.
Schlaffke L, Rehmann R, Güttsches AK, Vorgerd M, Meyer-Frießem CH, Dinse HR, Enax-Krumova E, Froeling M, Forsting J. Schlaffke L, et al. Among authors: guttsches ak. J Clin Med. 2024 Mar 28;13(7):1958. doi: 10.3390/jcm13071958. J Clin Med. 2024. PMID: 38610723 Free PMC article.
38 results