Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs,Molecular Genetics & Genomic Medicine

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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2021-06-17 , DOI: 10.1002/mgg3.1709
Kholoud N Al-Shafai _{1,

2} , Mohammed Al-Hashemi ₃ , Chidambaram Manickam ₂ , Rania Musa ₃ , Senthil Selvaraj ₂ , Najeeb Syed ₂ , Fazulur Vempalli ₂ , Muneera Ali ₃ , Magdi Yacoub ₄ , Xavier Estivill _{1,

2,

5}

Affiliation

Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are serious inherited heart diseases with various causative mutations identified. The full spectrum of causative mutations remains to be discovered, especially in understudied populations.

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