Myomesin is crucial for stabilizing the M-band in striated muscles by cross-linking myosin filaments and titin during muscle contraction.
A specific mutation (V1490I) in the myomesin gene was linked to hypertrophic cardiomyopathy (HCM) in a family, impacting the protein's structure and function.
Experimental analyses showed that this mutation disrupts dimerization and thermal stability in myomesin domains, potentially contributing to HCM's development.