COL6A3 and Parkinson disease: Moreover, although Lohmann et al. found that one German patient carried a compound heterozygous mutation, one in exon 41 [c.9245C>G (p.Pro3082Arg)] and the other in exon 6 [c.2195C>T (p.Thr732Met)] of the COL6A3 gene when examining 955 patients with isolated or combined dystonia or with another movement disorder with dystonic features, this patient was diagnosed as parkinsonism with dystonic posturing due to homozygous PINK1 mutations (13).