Table 1. Putative disease-causing variants in SUN1 and SUN2 in patients with EDMD-like phenotypes.

Family	Index case	SUN1 variant	SUN2 variant	Other mutations	Disease phenotype
1	MD-1	p.G68D p.G338S	none	none	Male; age at onset 10 years; mild muscle weakness; rigid spine; serum creatine kinase elevation 6X; no cardiac involvement; last clinical examination at age 10 years; sporadic case.
11	MD-11	none	p.R620C	none	Sporadic EDMD-related myopathy, no other clinical information available.
12	MD-12	p.W377C	p.E438D	none	Heart rhythm disturbances at age 34 years; partial lipodystrophy on left lower leg; sporadic case