Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

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.