P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12 years retrospective

Abstract

In 1999 we reported the first LMNA gene mutation responsible for the autosomal Emery-Dreifuss muscular dystrophy (EDMD), a gene encoding nuclear envelope proteins lamins A/C. Since a huge number of patients carrying LMNA mutations have been reported in other striated muscle disorders (including LGMD1B and isolated cardiac disease) or in neuropathies, lipodystrophies and premature ageing syndromes. These disorders are collectively named laminopathies. We reviewed clinical and genetic data of LMNA mutation carriers (1994 carriers, 961 families) including non published (406 carriers, 219 families, 145 different mutations) and those reported in the literature (737 families, 1583 carriers, 317 different mutations).