Table 1.

Collagen VI gene mutations and MRI findings in 11 patients with collagen VI gene mutation-related myopathies

Patient number	Genes	Substitution		Domain	Source	SIFT/Polyphen2	MRI findings
		Nucleotides	Amino acid				Fatty infiltration	Sandwich/target
1	COL6A2	c.955-2A>G(het)*	Splicing	THD	De novo		2.33	+/−
2	COL6A1	c.850G>A(het)*	p.G284R	THD	NA	0/0.98	2.33	+/+
3	COL6A1	c.842G>A(het)	p.G281E	THD	NA	0/0.969	2.92	+/+
4	COL6A2	c.2515_2516delGA(hom)	Deletion	C2	Patental		3.42	+/+
5	COL6A1	c.472G>A	p.D158N	N1	Maternal	0/0.997	1.25	+/−
	COL6A1	c.1576-2_1576-1delAG	Splicing	THD	Patental
6	COL6A1	c.1056+1G>T(het)	Splicing	THD	NA		2.92	+/+
7	COL6A2	c.2088G>C(het)	p.W696C	C1	Maternal	0.01/0.999	1.42	+/−
8	COL6A3	c.5114C>A	p.A1705D	N2	Patental	0.01/1	1.08	−/−
	COL6A3	c.1826G>A	p.R609Q	N7/N8	Maternal	0.57/0.997
9	COL6A2	c.1745G>A(het)	p.G582D	THD	De novo	0/1	2.08	+/+
10	COL6A2	c.1798G>A*	p.E600K	THD	Maternal	0.28/0.991	2.75	+/+
	COL6A2	c.11_23del	Deletion	SP	Patental
11	COL6A1	c.929_930insGCCGT	Insertion	THD	NA		2.33	+/+
	COL6A1	c.930+2T>G	Splicing	THD

Patients 1–6 and 7–11 were patients with UCMD and BM, respectively. SIFT score ≤0.05 and PolyPhen2 score approximately = 1 indicate a prediction of pathogenicity. *Mutation has been reported. Het: Heterozygosis; hom: Homozygosis; THD: Triple helical domain; N: N-terminal globular domain; C: C-terminal globular domain; SP: Signal peptide; NA: DNAs of parents were not available; +: With the sign; −: Without the sign; MRI: Magnetic resonance imaging.