Laminopathies


Laminopathies are a diverse group of genetic disorders arising from mutations in the LMNA genes encoding A-type lamins A & C, which are filament proteins of nuclear lamina membranes in most somatic cells. The first-described laminopathies were diseases of striated muscle such as autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD). The life-threatening feature of EDMD is a dilated cardiomyopathy with early conduction system abnormalities. LMNA mutations have also been associated with cases of congenital muscular dystrophy (CMD) with heart involvement. Some other diseases related to LMNA mutations are limb-girdle muscular dystrophy, heart- hand syndrome, Dunnigan-type familial partial lipodystrophy, mandibuloacral dysplasia, and Hutchinson-Gilford progeria syndrome.