Why the study?
Are mutations in the lamin A/C gene associated with autosomal dominant dilated cardiomyopathy and conduction-system disease?
Population
11 families with autosomal dominant dilated cardiomyopathy and conduction-system disease
Design
Case_series
Authors
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May support LMNA screening in familial DCM with conduction disease; leaves open prevalence and functional validation in larger cohorts.
Are mutations in the lamin A/C gene associated with autosomal dominant dilated cardiomyopathy and conduction-system disease?
Missense mutations in the rod domain of the lamin A/C gene are a genetic cause of dilated cardiomyopathy and conduction-system disease.
Fatkin et al. (1999) studied this question.
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