n conclusion, we identified several novelHcM-causing MYH7 mutations. More importantly, this isthe first study to report a rare HCM family with monoallelicdouble mutations
Rare variant in the MYH7 gene associated to HCM
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- Jun 2026
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Thevariants confirmed in this family were MYH7-a934V andMYH7-e1387K (Fig. 3a).
two variants confirmed by Sanger sequencing in the MYH7 gene among HCM family
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