Fig. 6
From: Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Characterization of the deep intronic mutation. a The c.1116G > C mutation appears heterozygous on the P3 DNA and homozygous on the RNA. b The PYROXD1 mRNA was strongly reduced in the muscle from P3. c Discriminative PCR on skeletal muscle cDNA revealed the presence of an aberrant amplicon with increased size (transcript 2). d Sequencing of the aberrant transcript 2 showed the inclusion of an additional 110 nt exon with in-frame stop codon (highlighted in black). The intronic mutation (red) reinforces a cryptic donor site (green)