. 2021 Jun 24;16:284. doi: 10.1186/s13023-021-01921-2

Table 2.

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

	Domain	Phenotype	IHC
Mono-allelic	THD	UCMD (55%)	SSCD (91%)
	THD	Intermediate (26%)	SSCD (91%)
	Outside of the THD	BM (93%)	SSCD (71%)
Bi-allelic	PTC in both alleles	UCMD (100%)	CD (100%)
Bi-allelic	Missense/in-frame deletion in at least one allele	UCMD/BM	SSCD (86%)

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