Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy
Sathiyanarayanan Manivannan, Sihem Darouich, Aïda Masmoudi, David Gordon, Gloria A. Zender, Zhe Han, Sara M. Fitzgerald‐Butt, Peter White, Kim L. McBride, Maher Kharrat, Vidu Garg
The paper identifies a novel recessive frameshift variant in MYL2 causing severe infantile-onset HCM and shows molecular differences between recessive and dominant MYL2 variants.
PLoS Genetics · May 26, 2020Peer-reviewedGenetics