Key result
Four mutations in the beta-myosin rod causing myosin storage myopathy exhibit distinct molecular phenotypes, ranging from thermodynamic instability to defects in filament assembly and stability.
Population
Molecular models of 4 mutations in the slow/cardiac muscle myosin, beta-MyHC responsible for myosin storage…
Design
Preclinical
Authors
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Highlights mechanistic heterogeneity in myosin storage myopathy; hypothesis-generating for human translation and mechanism-targeted therapies.
Mutations in the rod region of beta-myosin cause myosin storage myopathy through multiple distinct molecular mechanisms, including thermodynamic instability and filament assembly defects.
Armel et al. (2009) studied Myosin storage myopathy. MYH7 mutations (L1793P, R1845W, E1886K, H1901L) vs. Wild-type MYH7 LMM was evaluated on Protein stability, self-assembly, and paracrystal formation. Four mutations in the beta-myosin rod causing myosin storage myopathy exhibit distinct molecular phenotypes, ranging from thermodynamic instability to defects in filament assembly and stability.
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