Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy
G Limongelli, L Hawkes, R Calabro… - European journal of …, 2006 - Elsevier
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major
cause of sudden death. It is an autosomal dominant disorder predominantly caused by
mutations in genes encoding for sarcomeric proteins. Only 50–60% of HCM probands have
mutations in known genes suggesting the presence of additional disease genes. Noonan
and LEOPARD syndromes are characterised by multiple dysmorphia and cardiac defects
with HCM present in approximately 20% of cases. Both syndromes are caused by mutations …
cause of sudden death. It is an autosomal dominant disorder predominantly caused by
mutations in genes encoding for sarcomeric proteins. Only 50–60% of HCM probands have
mutations in known genes suggesting the presence of additional disease genes. Noonan
and LEOPARD syndromes are characterised by multiple dysmorphia and cardiac defects
with HCM present in approximately 20% of cases. Both syndromes are caused by mutations …