Article

Advanced modelling of RYR1-related myopathies using human iPS cells and 3D engineered skeletal muscles

2026-08-14

Abstract excerpt

<title>Abstract</title> <p> Background Ryanodine receptor type 1-related myopathies (RYR1-RM) represent a clinically and genetically heterogeneous group of congenital skeletal muscle disorders caused by pathogenic variants in the ryanodine receptor type 1 ( <italic>RYR1</italic> ) gene, which encodes a calcium channel critical for skeletal muscle excitation-contraction coupling. Dysregulated calcium handling...

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Literature Corpus work: d7034565-4b52-5d35-8c6e-9bfae76069cb
DOI: 10.21203/rs.3.rs-10606489/v1

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