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Ryanodine receptor 1 ( <i>RYR1</i> ) patient-derived muscle cells recapitulate disease phenotypes in 2D and 3D culture models

2026-06-20

Abstract excerpt

The Ryanodine Receptor 1 (RyR1) is the major Ca 2+ release channel in skeletal muscle and plays a crucial role in excitation-contraction coupling. Pathogenic variants in RYR1 are the most common cause of congenital myopathy, for which there are no approved treatments. Patient-centric disease models may help to facilitate the design and screening of novel therapeutics in a human genomic context. In this report, w...

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Literature Corpus work
8ebab758-6321-5b88-9f9e-bb9d3307ae56
DOI
10.64898/2026.06.18.732485
Open publication

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