High Resolution Melting: improvements in the genetic diagnosis of Hypertrophic Cardiomyopathy in a Portuguese cohort

BMC Medical Genetics 2012, 13:17 doi:10.1186/1471-2350-13-17
Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira
Vasco Lanca, Dulce Brito, Hugo Madeira, Esteves J Fonseca, Antonio Freitas,
Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes.

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Keywords: Hypertrophic cardiomyopathy, Gene-based diagnosis, High Resolution Melting, Sarcomere proteins, CSRP3 gen, FXN gene.

Background: Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine.