Key result
CSRP3 missense mutations were identified as a cause of hypertrophic cardiomyopathy in five families, with functional data suggesting destabilization of the encoded muscle LIM protein.
Authors
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CSRP3 variants may contribute to familial HCM; extends known genetic causes but remains hypothesis-generating for testing and management.
Observational
Geier et al. (2008) conducted an observational in Hypertrophic cardiomyopathy (HCM). CSRP3 missense mutations was evaluated on Causative role of CSRP3 mutations in hypertrophic cardiomyopathy. CSRP3 missense mutations were identified as a cause of hypertrophic cardiomyopathy in five families, with functional data suggesting destabilization of the encoded muscle LIM protein.
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