At this point, Panda et al. also identified a pathogenic compound heterozygous mutation, not in exon 41 but in exon 10 [c.7557C>T (p.Gly1517Ser)] and exon 12 [c.4498G>A (p.Pro1894Leu)] of the COL6A3 gene in an Indian case with early-onset isolated dystonia (14). This evidence concerns the gene COL6A3 and Dystonia.