From: Causative variant profile of collagen VI-related dystrophy in Japan
 | Domain | Phenotype | IHC |
---|---|---|---|
Mono-allelic | THD | UCMD (55%) | SSCD (91%) |
Intermediate (26%) | |||
Outside of the THD | BM (93%) | SSCD (71%) | |
Bi-allelic | PTC in both alleles | UCMD (100%) | CD (100%) |
Missense/in-frame deletion in at least one allele | UCMD/BM | SSCD (86%) |