Collagen VI-related myopathy with scoliosis alone: A case report and literature review

Table 1 Immunohistochemical results of multifidus muscle

Antibody	Result	Antibody	Result
Dystrophin	+	Dystrophin-2	A few sarcolemma staining in different shades
Dystrophin-1	+	Dystrophin-3	A few sarcolemma staining in different shades
Dysferlin	+	HLA-DR	Vascular endothelium and inflammatory cells +
Lambda	-	MHC-1	A few sarcolemma and myoplasm+
CD20	Very few +	CD4	A few vessel wall and interstitial substance +
CD163	-	CD8	A few vessel wall and interstitial substance +
		CD138	Interstitial substance visible occasionally +

HLA-DR: Human leukocyte antigen DR; MHC-1: Major histocompatibility complex 1.

Table 2 Genetic tests showed mutations in COL6A1 and COL6A2

Gene	Locus	Variant	Consequence	Location	Type	Prediction
COL6A1	NM_001848	C.1612-10G>A	-	Intron24	Heterozygote	-
COL6A2	NM_001849	C.115+10G>T	-	Intron2	Heterozygote	-
COL6A2	NM_001849	C.2749G>A	P. Val917Met	Exon28	Heterozygote	Disease causing