Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations

Lien vers Pubmed [PMID] – 12920062

J. Med. Genet. 2003 Aug;40(8):560-7

Mutations in the lamin A/C gene (LMNA) have been reported to be involved in dilated cardiomyopathy (DCM) associated with conduction system disease and/or skeletal myopathy. The aim of this study was to perform a mutational analysis of LMNA in a large white population of patients affected by dilated cardiomyopathy with or without associated symptoms.