{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMYH7 encodes the slow‐/β‐cardiac myosin heavy chain, a fundamental motor protein that drives contraction in both the cardiac ventricles and type I skeletal muscle fibers. The protein is a principal component of the thick filament and is essential for the assembly and proper function of the contractile apparatus in striated muscles."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the heart, alterations in MYH7 are intimately linked with a range of cardiomyopathies. Mutations—whether classified as “benign” or overtly pathogenic—are among the most common causes of hypertrophic cardiomyopathy (HCM) and similarly contribute to dilated cardiomyopathy and left ventricular noncompaction. Studies have shown that MYH7 variants occur with significant prevalence and can influence clinical phenotypes by modifying contractile function, energetic cost, and even resting heart rate. Such mutations (including those like R403Q) directly affect cross‐bridge cycling and force‐generation efficacy, while some genetic variants have also been associated with congenital cardiac anomalies such as Ebstein’s anomaly."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nDetailed structural and mechanistic studies have provided insight into how specific mutations in MYH7 alter myosin performance at the molecular level. Crystallographic analyses of the myosin subfragment-2 (S2) have revealed the coiled coil structure and delineated binding sites critical for intramolecular interactions. Mutations in the converter domain and adjacent regions (including those found in the myosin mesa) disrupt the normal elastic properties and intramolecular head–tail interactions that normally sequester myosin in the “off” state. These alterations have been linked to changes in ATPase activity, force generation, and a shift in the equilibrium toward a higher number of functionally accessible, active myosin heads. Such studies, which include evaluations of mutations like R453C, early-onset changes (D239N, H251N) and the P710R disruption of the sequestered state, provide a molecular explanation for the hypercontractility observed in mutant cardiomyocytes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "24"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond cardiac effects, MYH7 mutations are also implicated in skeletal muscle disorders. Several missense mutations in the head and rod regions of MYH7 underlie conditions such as Laing early-onset distal myopathy and myosin storage myopathy. These mutations disrupt normal filament assembly and protein–protein interactions in muscle fibers, contributing to muscle weakness and structural abnormalities typical of these myopathies."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "25", "end_ref": "27"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFinally, comprehensive family screening and integrated genetic assessments have underscored the diagnostic importance of MYH7. Identifying mutations within this gene not only aids in risk stratification for cardiomyopathies but also enhances our understanding of disease heterogeneity, thereby guiding personalized clinical management strategies."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Edward Blair, Charles Redwood, Marisa de Jesus Oliveira, et al. 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