Article

Divergent molecular phenotypes in point mutations at the same residue in beta-myosin heavy chain lead to distinct cardiomyopathies

2023-07-03

Abstract excerpt

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 (β-MHC) that are linked to hypertrophic cardiomyopathy (HCM) (Ile467Val, I467V) and left ventricular non-compaction (LVNC) (Ile467Thr, I467T). To investigate how these missense mutations lead to indepe...

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Literature Corpus work: 89683142-7304-5059-b5c7-6948d7fc52e1
DOI: 10.1101/2023.07.03.547580

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Divergent molecular phenotypes in point mutations at the same residue in beta-myosin heavy chain lead to distinct cardiomyopathiesDOI 10.1101/2023.07.03.547580Read

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