Pseudoileus caused by primary visceral myopathy in a Han Chinese patient with a rare MYH11 mutation: A case report

Figure 1 Computed tomography examination results. A: Computed tomography indicated that the large intestine showed a clearly dilated intestinal lumen, normal mucosal wrinkling, and chronic pseudo intestinal obstruction changes; B: Delayed enhancement of the renal medulla.

Figure 2 Sanger sequencing validation of the mutation site of MYH11; NM_001040113. 1; c.5819delC; p.Pro1940Hisfs*91. The top plot shows the patient’s verification results, and the lower plot shows the patient’s mother’s verification results. The red arrow indicates the mutation location, at the C nucleotide at position 5819 of the gene coding sequence.

Figure 3 Three-dimensional protein model analysis indicating changes in the structure and conformation of the mutant protein. A: Alignment of the wild-type MYH11 protein sequence and the MYH11 protein sequence with the p.Pro1940Hisfs*91 mutation from position 1801 using DNAMAN software. Black shading indicates the homologous sequence; B: Three-dimensional structure of the wild-type MYH11 protein and the MYH11 protein sequence with p.Pro1940Hisfs*91 mutation, determined with SWISS-MODEL, a fully automated protein structure homology-modeling server. The mutant protein is 91 amino acids longer than the wild-type MYH11 protein, thus resulting in the change circled in red.