Functional Characterization of Endogenously Expressed Human RYR1 VariantsSusan Treves 1,2, Thierry Girard 3, Francesco Zorzato 1,2
1Department of Biomedicine, Basel University Hospital, 2Department of Life Sciences, University of Ferrara, 3Department of Anesthesia, Basel University Hospital
Here methods used to study the functional effect of RYR1 mutations endogenously expressed in Epstein Barr Virus immortalized human B-lymphocytes and muscle biopsy derived satellite cells differentiated into myotubes are described.
