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Basel University Hospital

1 ARTICLES PUBLISHED IN JoVE

Medicine

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Susan Treves^1,2, Thierry Girard³, 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.