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A Laing distal myopathy–associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity

30 Apr 2024

Abstract excerpt

Proline substitutions within the coiled-coil rod region of the β-myosin gene (MYH7) are the predominant mutations causing Laing distal myopathy (MPD1), an autosomal dominant disorder characterized by progressive weakness of distal/proximal muscles. We report that the MDP1 mutation R1500P, studied in what we believe to be the first mouse model for the disease, adversely affected myosin motor activity despite being...

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PMID: 38690726
DOI: 10.1172/jci172599

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