Fig. 2

(i): Partial chromatograms from exon 25 of the COL6A1 gene showing the heterozygous variant [NM_001848:c.1667 G > T;NP_001839.2:p.Gly556Val] in the mother (a), father (b), unaffected sibling (e) and homozygous variant in proband 1 (c) and proband 2 (d) (ii): Consanguineous pedigree showing the two affected siblings and the unaffected carrier parents and elder sibling (iii) Schematic diagram showing the evolutionary conservation of glycine residue at codon position 556 in the triple helical domain of COL6A1