A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-019-0804-0.pdf
Reference18 articles.
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2. Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol. 2013;125:3–18.
3. Colegrave M, Peckham M. Structural implications of β-cardiac myosin heavy chain mutations in human disease. Anat Rec. 2014;297:1670–80.
4. Buvoli M, Hamady M, Leinwand LA, Knight R. Bioinformatics assessment of β-myosin mutations reveals myosin high sensitivity to mutations. Trends Cardiovasc Med. 2008;18(4):141–9.
5. Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A. New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. Neurology. 2007;68(23):2041–2.
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1. 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;Orphanet Journal of Rare Diseases;2022-07-19
2. Cytoskeletal Proteins;Encyclopedia of Respiratory Medicine;2022
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