Zech et al. first reported that COL6A3 mutation was associated with autosomal-recessive (DYT)-27 (11), in which they identified disease-segregating compound heterozygous mutations of COL6A3 in five cases affected by isolated dystonia from three unrelated German families, specifically, two siblings with c.9128G>A (p.Arg3043His) and c.9245C>G (p.Pro3082Arg), two siblings with c.7502G>A (p.Arg2501His) and c.8966-1G>C (p.Val2989_Lys3077delinsGlu), and one patient from the other family with c.7660G>A (p.Ala2554Thr) and c.8966-1G>C (p.Val2989_Lys3077delinsGlu). The gene discussed is COL6A3; the disease is Dystonia.