Copyright
©The Author(s) 2021.
World J Clin Cases. Jul 6, 2021; 9(19): 5302-5312
Published online Jul 6, 2021. doi: 10.12998/wjcc.v9.i19.5302
Published online Jul 6, 2021. doi: 10.12998/wjcc.v9.i19.5302
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 |
- Citation: Li JY, Liu SZ, Zheng DF, Zhang YS, Yu M. Collagen VI-related myopathy with scoliosis alone: A case report and literature review . World J Clin Cases 2021; 9(19): 5302-5312
- URL: https://www.wjgnet.com/2307-8960/full/v9/i19/5302.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v9.i19.5302