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Article

Functional Characterization of Endogenously Expressed Human RYR1 Variants.

Journal of visualized experiments : JoVE - 9 Jun 2021

Treves Susan, Girard Thierry, Zorzato Francesco

Abstract excerpt

More than 700 variants in the RYR1 gene have been identified in patients with different neuromuscular disorders including malignant hyperthermia susceptibility, core myopathies and centronuclear myopathy. Because of the diverse phenotypes linked to RYR1 mutations it is fundamental to characterize their functional effects to classify variants carried by patients for future therapeutic interventions and identify...

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PMID: 34180878
DOI: 10.3791/62196

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