{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bader I"],"funding":["Austrian Science Fund FWF"],"pagination":["279"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9295345"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(1)"],"pubmed_abstract":["<h4>Background</h4>Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac myosin molecule, resulting in distal muscle weakness as the predominant manifestation. Here we describe two unrelated patients harboring an in-frame deletion in the MYH7 gene that is predicted to result in deletion of a single amino acid (p.Glu500del) in the head domain of ß-cardiac myosin. Both patients display an unusual skeletal myopathy phenotype with congenital axial stiffness and muscular hypertonus, but no cardiac involvement.<h4>Results</h4>Clinical data, MRI results and histopathological data were collected retrospectively in"],"journal":["Orphanet journal of rare diseases"],"pubmed_title":["A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy."],"pmcid":["PMC9295345"],"funding_grant_id":["I 4695"],"pubmed_authors":["Landauer F","Rauscher C","Sperl W","Mueller-Felber W","Freilinger M","Bader I","Schmidt WM","Mayr JA","Bittner RE","Waldmuller S"],"additional_accession":[]},"is_claimable":false,"name":"A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.","description":"<h4>Background</h4>Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac myosin molecule, resulting in distal muscle weakness as the predominant manifestation. Here we describe two unrelated patients harboring an in-frame deletion in the MYH7 gene that is predicted to result in deletion of a single amino acid (p.Glu500del) in the head domain of ß-cardiac myosin. Both patients display an unusual skeletal myopathy phenotype with congenital axial stiffness and muscular hypertonus, but no cardiac involvement.<h4>Results</h4>Clinical data, MRI results and histopathological data were collected retrospectively in","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jul","modification":"2026-07-14T21:37:49.123Z","creation":"2026-06-26T03:07:49.975Z"},"accession":"S-EPMC9295345","cross_references":{"pubmed":["35854315"],"doi":["10.1186/s13023-022-02421-7"]}}