Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
Titel:
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
Auteur:
Jungbluth, Heinz Zhou, Haiyan Sewry, Caroline A. Robb, Stephanie Treves, Susan Bitoun, Marc Guicheney, Pascale Buj-Bello, Anna Bönnemann, Carsten Muntoni, Francesco