Table 1.
Clinical Phenotypes of Five Isolated Dystonia Case Subjects with Biallelic COL6A3 Mutations in Three German Families
| Individual | Sex | Age at Sampling (years) | Age at Onset (years) | Site of Onset | Dystonia Distribution | Dystonic Features |
|---|---|---|---|---|---|---|
| Family 1 (F1): c.9128G>A (p.Arg3043His) + c.9245C>G (p.Pro3082Arg)a | ||||||
| F1-III-1 | M | 51 | 20 | neck | segmental | tremulous cervical dystonia; upper limb dystonia with dystonic action and postural tremor; writer’s cramp; oromandibular dystonia; laryngeal dystonia; trunk dystonia |
| F1-III-3 | F | 48 | 20 | neck | segmental | tremulous cervical dystonia; upper limb dystonia with dystonic action and postural tremor; writer’s cramp; oromandibular dystonia; laryngeal dystonia |
| Family 2 (F2): c.8966−1G>C (p.Val2989_Lys3077delinsGlu) + c.7502G>A (p.Arg2501His)a | ||||||
| F2-II-2 | M | 71 | 24 | neck | focal | cervical dystonia |
| F2-II-3 | F | 68 | 24 | hand | segmental | writer’s cramp; cervical dystonia |
| Family 3 (F3): c.8966−1G>C (p.Val2989_Lys3077delinsGlu) + c.7660G>A (p.Ala2554Thr)a | ||||||
| F3-II-3 | M | 62 | 6 | hand | segmental | writer’s cramp; cervical dystonia; oromandibular dystonia |
a
Numbering according to NCBI accessions GenBank: NM_004369.3 and NP_004360.2.