Multitissular involvement in a family with LMNAand EMDmutations

Mutations in the EMDand LMNAgenes, encoding emerin and lamins A and C, are responsible for the X-linked and autosomal dominant and recessive forms of Emery–Dreifuss muscular dystrophy (EDMD). LMNAmutations can also lead to several other disorders, collectively termed laminopathies, involving heart, fat, nerve, bone, and skin tissues, and some premature ageing syndromes.