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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
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172