Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males
PMID: 34588271
Gene: MYBPC3
HGNC ID: HGNC:7551
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Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time
33101033
MyBPC3
HGNCID:7551
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- Oct 2026
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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SLO proband 1 G/G C/C delC/delC C/C A/A CTT/delTT C/C
Table 1 identifies individual Slovenian probands carrying MYBPC3:c.913_914del and compares genetic markers used for haplotype analysis
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Echocardiographic characteristics of Slovenian probands with MYBPC3:c.913_914del (18) and those with other LP/P MYBPC3 variants (21)
Table 3 compares heart measurements between probands with MYBPC3:c.913_914del and those with other MYBPC3 variants. These measurements help evaluate how the variants relate to heart structure and function
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Clinical characteristics of Slovenian probands with MYBPC3:c.913_914del (18) and those with other LP/P MYBPC3 variants (21)
Table 2 compares clinical symptoms and characteristics between 18 probands with MYBPC3:c.913_914del and 21 probands with other likely pathogenic or pathogenic MYBPC3 variants. The differences shown were not statistically significant.
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