COL6A3 and cervical dystonia: In our study, by analyzing the COL6A3 gene by whole-exome sequencing in 45 Chinese patients with isolated cervical dystonia, we found four compound heterozygous mutations (Table 1) and further identified a novel deleterious mutation in patient S10 after harmful filtration, that is, c.1264G>A (p.Val422Met) in exon 4 and c.8965+9G>A in exon 40.