Table 1.

Clinical and genetics comparison of LMNA-RD myopathies.

	EDMD-2	LGMD-1B	L-CMD
Age of onset	2nd to 3rd decade	3rd to 4th decade	Congenital onset
Muscular weakness	Scapulo-humero-peroneal distribution	Pelvic and scapular girdles	Axial (dropped head syndrome) or severe and diffuse
Contractures	+++ (elbow)	+	(spine, hips, knees, Achille tendons)
Heart abnormalities	Invariable with age, after skeletal muscle phenotype Conduction defects +/- dilated cardiomyopathy	Invariable with age	Cardiac conduction defects
Respiratory phenotype	Rare	Rare	Very frequent
Loss of independent ambulation	Rare	Rare	Very frequent
Axial involvement	Frequent	Rare	Frequent
Facial damages	Rare	Very rare	Very rare
Scoliosis	Frequent	Rare	Frequent
Type of most frequently observed LMNA mutations	Missense	Frameshift	Missense

EDMD, emery-dreifuss muscular dystrophy; CMD, congenital muscular dystrophy; LGMD1B, limb-girdle muscular dystrophy 1B.