Key result
MYPN mutations were found in 1.66% of patients with cardiomyopathy, with specific variants causing distinct structural and functional abnormalities in cardiac muscle.
Population
900 patients with hypertrophic, dilated and restrictive cardiomyopathy, alongside neonatal rat…
Design
Preclinical
Authors
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MYPN variants may contribute to HCM/DCM/RCM; leaves open pathogenicity and testing utility pending functional validation.
Observational (n=900)
MYPN mutations cause various forms of cardiomyopathy through distinct molecular mechanisms, including disturbed myofibrillogenesis and abnormal nuclear shuttling.
Purevjav et al. (2012) conducted an observational in Hypertrophic (HCM), dilated (DCM) and/or restrictive cardiomyopathy (RCM) (n=900). Myopalladin (MYPN) mutations was evaluated on Identification of MYPN variants and their functional consequences. MYPN mutations were found in 1.66% of patients with cardiomyopathy, with specific variants causing distinct structural and functional abnormalities in cardiac muscle.
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