Background: A 25-basepair deletion in the MYBPC3 gene is the most prevalent hypertrophic cardiomyopathy-associated mutation among South Asian populations.

Results: Expression of mutant protein (cMyBP-CC10mut) in cultured adult rat cardiomyocytes led to improper localization and contractile dysfunction.

Conclusion: cMyBP-CC10mut expression is sufficient to cause contractile dysfunction.

Significance: The study sheds light on the etiology of this ethnic-specific hypertrophic cardiomyopathy mutation.