Analysis of 6112 HCM variants indicated that the 72% of mutations that changed electrostatic charges disproportionately altered IHM interaction residues (expected for random distribution 23%; found with HCM mutations 54%, p = 2.6 × 10 −19 , indicating a highly significant association of HCM mutations with the IHM [ 111 ]).
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The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.
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