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Table 2. Genotype-phenotype correlation of collagen VI-related dystrophy in this study

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%)
  1. IHC, immunohistochemistry; PTC, premature stop codon; THD, triple helical domain; UCMD, Ullrich congenital muscular dystrophy; BM, Bethlem myopathy; CD, complete deficiency; SSCD, sarcolemma-specific collagen VI deficiency