MYH7 mutation causes polyhydramnios, congenital axial stiffness and skeletal myopathy
A new study published in the Orphanet Journal of Rare Diseases identified a mutation in the MYH7 gene which alters an amino acid, within 2 unrelated boys who express an unusual skeletal myopathy phenotype with congenital axial stiffness and muscular hypertonus, but no cardiac involvement Various observations and analyses (clinical data, MRI results, histopathological data) revealed a deletion of a highly conserved glutamate residue (p.Glu500del) in the relay loop of the head domain of the ß-cardiac myosin heavy chain. From a literature review on mutations linked with p.Glu500del alterations, this study provides an in-silico analyses of potential effects on polypeptide function , and has implications for future diagnostics and therapeutic approaches.
- Orphanet J Rare Dis . 2022 Jul 19;17(1):279