Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, London, Ontario, Canada
robert.hegele@rri.on.ca
Naturally occurring mutations within the LMNA gene, which encodes nuclear lamin, have been identified in patients with three rare and apparently unrelated diseases. Understanding how these mutations cause disease will improve our knowledge of nuclear envelope function, as well as the pathogenesis of myopathy, cardiac conduction abnormalities and drug-induced lipodystrophy.
