[HTML][HTML] Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy
C Suay-Corredera, MR Pricolo, E Herrero-Galán… - Journal of Biological …, 2021 - ASBMB
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease.
Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are
the leading cause of HCM. However, the pathogenicity status of hundreds of MYBPC3
variants found in patients remains unknown, as a consequence of our incomplete
understanding of the pathomechanisms triggered by HCM-causing variants. Here, we
examined 44 nontruncating MYBPC3 variants that we classified as HCM-linked or …
Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are
the leading cause of HCM. However, the pathogenicity status of hundreds of MYBPC3
variants found in patients remains unknown, as a consequence of our incomplete
understanding of the pathomechanisms triggered by HCM-causing variants. Here, we
examined 44 nontruncating MYBPC3 variants that we classified as HCM-linked or …
