Fig. 3

Molecular and protein analyses. a Sanger sequencing confirmed the compound heterozygous mutations c.661-1G > T and c.2938G > A in TRAPPC11. b Analysis of skeletal muscle cDNA flanking exons 6 and 7 of TRAPPC11 showed two mutant transcripts (1 and 2) in addition to the 234-bp normal amplicon. c The novel c.661-1G > T splice-site mutation results in two mutant transcripts; mutant 1 with a truncated exon 7, and mutant 2 with both truncated exon 7 and a cryptic exon in intron 6, both of which are predicted to cause translational frameshift, p.Leu240Alafs*10 and p.Leu240Valfs*7, respectively. Altered amino acids are in bold. d Protein analysis using the biopsied muscle revealed the absence of TRAPPC11 protein at 130 kDa while TRAPPC2 and tubulin were comparable to control muscle