Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy
严重先天性肌病患者中复合杂合RYR1变异:病例报告及与其他隐性RYR1相关肌病病例的比较
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms251910867
Janßen, Sören; Erbe, Leoni S; Kneifel, Moritz; Vorgerd, Matthias; Döring, Kristina; Lubieniecki, Krzysztof P; Lubieniecka, Joanna M; Gerding, Wanda M; Casadei, Nicolas; Güttsches, Anne-Katrin; Heyer, Christoph; Lücke, Thomas; Nguyen, Hoa Huu Phuc; Köhler, Cornelia; Hoffjan, Sabine