New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.

Aguib Y.; Allouba M.; Walsh R.; Ibrahim AM.; Halawa S.; Afify A.; Hosny M.; Theotokis PI.; Galal A.; Elshorbagy S.; Roshdy M.; Kassem HS.; Ellithy A.; Buchan R.; Whiffin N.; Anwer S.; Cook SA.; Moustafa A.; ElGuindy A.; Ware JS.; Barton PJR.; Yacoub M.

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New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy.

Aguib Y., Allouba M., Walsh R., Ibrahim AM., Halawa S., Afify A., Hosny M., Theotokis PI., Galal A., Elshorbagy S., Roshdy M., Kassem HS., Ellithy A., Buchan R., Whiffin N., Anwer S., Cook SA., Moustafa A., ElGuindy A., Ware JS., Barton PJR., Yacoub M.

Original publication

DOI

10.1161/circulationaha.120.048295

Type

Journal article

Journal

Circulation

Publication Date

08/2021

Volume

144

Pages

754 - 757

Addresses

Aswan Heart Centre, Egypt (Y.A., M.A., A.M.I., S.H., A.A., M.H., A.G., S.E., M.R., A.E., S.A., A. ElGuindy, M.Y.).

Keywords

Humans, Cardiomyopathy, Hypertrophic, Genetic Predisposition to Disease, Cardiac Myosins, Myosin Heavy Chains, Immunohistochemistry, Pedigree, Consanguinity, Genotype, Frameshift Mutation, Alleles, Genetic Variation, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Transcriptome