Abstract
Laminopathies are genetic diseases caused by mutations in the LMNA gene encoding A-type lamins. These proteins together with B-type lamins form the nuclear lamina which is responsible for maintaining nuclear/cell shape and regulating gene expression. In the skeletal muscle, mutated A-type lamins are linked to Emery-Dreifuss (EDMD) and congenital muscular (CMD) dystrophies. The exact pathophysiology of laminopathies remains unknown. Additionally, the rarity of the disorder and the lack of easily accessible cell types for ex vivo studies impact on therapy development.
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