Shahlo O. Solieva

Different Substitutions at the Same β-Myosin Residue Underlie Divergent Molecular Phenotypes and Distinct Cardiomyopathies.

In genetic cardiomyopathies, a frequently described phenomenon is how similar mutations in one protein can lead to discrete clinical phenotypes. One example is illustrated by two mutations in beta myosin heavy chain (MYH7) that are linked to hypertrophic cardiomyopathy (HCM) (Ile467Val, I467V) and left ventricular non-...