Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Heinz Jungbluth , Haiyan Zhou , Caroline Sewry , Stephanie Robb , Susan Treves , Marc Bitoun , Pascale Guicheney , Anna Buj-Bello (1) , Carsten Bönnemann , Francesco Muntoni

1 Inserm U964 - CNRS UMR7104 - IGBMC - Centre for Integrative Biology - CBI

Domaines: Sciences du Vivant [q-bio]

Heinz Jungbluth, Haiyan Zhou, Caroline Sewry, Stephanie Robb, Susan Treves, et al.. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular Disorders, 2007, 17 (4), pp.338-345. ⟨10.1016/j.nmd.2007.01.016⟩. ⟨hal-04481762⟩