eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0042373|vascular disease |
| Sentences | 1 |
| PubMedID- 25407000 | In addition, a de novo mutation (p.arg179his) in the gene acta2, which also codes for a smooth muscle actin, has been described in a patient with a visceral myopathy leading to aortic and cerebrovascular disease, hypotonic bladder, malrotation and hypoperistalsis of the gut.12 examination of the exome data set of our patient showed that all the coding exons and splice sites of actg2 and actg2 were well covered and did not harbor any variants. |
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