Table 2. SUN1 and SUN2 variants with disease-modifying effects in patients with MYBPC3, EMD and LMNA mutations.

Family	Index case	SUN1 variant	SUN2 variant	Other mutations	Disease phenotype
2	MD-2	none	p.M50T p.V378I	MYBPC3 p.G148R	Male; age at onset 6 months; hypertrophic cardiomyopathy; at age 9 years ECG showed cardiac arrhythmia, supraventricular extrasystols, Echocardiogram: right ventricular septum hypertrophy, first degree atrioventricular block; no muscular weakness or dystrophy; sinus tachycardia and bradycardia, mild left ventricular functional impairment; died at age16 years from heart failure; sporadic case.
3	MD-3	p.A203V	none	EMD p.L84Pfs*6	Male; age at onset 2 years; severe contractures of neck, thoracolumbar spine, elbows, and Achilles tendons; Achillotomia at age 6; loss of ambulation at age 15; moderate to severe muscle weakness; left anterior hemi-block and ventricular ectopy at age 23; ventricular dilation at age 33; X-linked EDMD [39].
4	MD-4	p.G76A	none	EMD p.A56Pfs*9	Male; age of onset 1 year, wasting and weakness of shoulder girdle and limb-girdle muscles; at age 14 severe contractures of neck, elbow and Achilles tendons, tendon reflexes absent; at age 14 dilated right atrial and ventricular dilation, atrial fibrillation, complete AV block and junctional escape rhythm; pacemaker since age 14; CK elevation 4X; X-linked EDMD [46].
5	MD-5	p.W377C	none	LMNA p.R453W	Male; age of onset 8 years; slowly progressive humero-peroneal muscular weakness; since age 14 rigid spine, contractures of elbow and Achilles-tendons; at age 25 cardiac disturbances; AV-block III; heart pacemaker at age 31; died at age 34 of heart failure; autosomal dominant EDMD.
6	MD-6	none	p.A56P	LMNA p.T528K	Male; age at onset 1 year; delayed early childhood developmental mile stones; later difficulties in climbing stairs, muscular weakness; at age 15 tachycardia, extrasystols; at age 17 intra-ventricular cardiac conduction defects, contractures of elbow and Achilles tendons; proximal humero-peroneal muscle atrophy, rigid spine, Gower's maneuver; CK elevated 3–5X; de novo LMNA mutation leading to sporadic EDMD.
7	MD-7	none	p.V378I	LMNA p.R99P	Female; age of onset 4 years, diffuse muscular weakness; later bilateral contractures of the elbows and ankles, dilated cardiomyopathy, first degree atrioventricular block; at age 14 heart pacemaker; histopathology showed fibrosis of the heart muscle; at age 15 heart transplantation; de novo LMNA mutation leading to sporadic EDMD.