Table 1.

Patient's details. Phenotype, motor function, collagen VI type of expression in muscle or skin biopsies, and mutation in COL6A genes are reported for each patient. All the patients had a UCMD clinical phenotype. At baseline, P5 and P6 were able to walk. ColVI levels are based on immunoistochemistry as described in original references [2, 14]. Patients had mutations in each of the 3 COL6A genes both de novo or compound heterozygous.

Patient	Phenotype	Collagen VI	Mutation(s)
1	UCMD, NW	Mild reduction in muscle fibers and fibroblasts	COL6A1 de novo heterozygous Gly284Arg [14]
2	UCMD, NW	Marked reduction in muscle fibers	COL6A2 compound heterozygous Gly487-Ala495delAspfsX48 and Glu591-Cys605delThrfsX148 [2]
3	UCMD, NW	Marked reduction in muscle fibers	COL6A1 de novo heterozygous del275-280/insGlu275 [14]
4	UCMD, NW	ND	COL6A2 compound heterozygous Gly487-Ala495delAspfsX48 and Glu591-Cys605delThrfsX148 [2]
5	UCMD, W	Moderate reduction in muscle fibers	COL6A2 compound heterozygous intron 8 c.927 + 5 G>A het p.Lys318fsX6
6	UCMD, W	Moderate reduction in muscle fibers	COL6A3 heterozygous G to A nt 6465 +1

UCMD: Ullrich congenital muscular dystrophy; W: walker; NW: nonwalker; ND: not done.