The concept that the phenotype observed in patients affected by inherited arrhythmogenic diseases is determined exclusively by the primary genetic defect, transmitted as a mendelian trait, has been questioned by a substantial body of clinical literature showing that incomplete penetrance and variable expressivity are common features of these diseases. Investigations demonstrating genotype–phenotype correlations have provided major advances in the understanding of arrhythmogenic disease. Once more, translational science that places clinicians and basic scientists side by side has created a win-win situation in which both basic and clinical science benefit from the interaction.
Molecular underpinning of ''good luck''
PRIORI, SILVIA GIULIANA;Napolitano C.
2006-01-01
Abstract
The concept that the phenotype observed in patients affected by inherited arrhythmogenic diseases is determined exclusively by the primary genetic defect, transmitted as a mendelian trait, has been questioned by a substantial body of clinical literature showing that incomplete penetrance and variable expressivity are common features of these diseases. Investigations demonstrating genotype–phenotype correlations have provided major advances in the understanding of arrhythmogenic disease. Once more, translational science that places clinicians and basic scientists side by side has created a win-win situation in which both basic and clinical science benefit from the interaction.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
