Associated Papers
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.
Bader I et al.
Orphanet Journal of Rare Diseases, 2022
A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.
Mamelona J et al.
Bmc Medical Genetics, 2019
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Fiorillo C et al.
Orphanet Journal of Rare Diseases, 2016
Select a paper to view details