Fig. 2From: COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case reporta. Arrow indicates the proband. b. Next-generation sequencing of whole-exome sequences revealed a de novo heterozygous G-to-A nucleotide substitution at position 877 in exon 10 of the COL6A1 gene. c & d. The same mutation was not detected in his parentsBack to article page