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

BACKGROUND: 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 wea...

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Detalles Bibliográficos
Autores principales: Bader, Ingrid, Freilinger, M., Landauer, F., Waldmüller, S., Mueller-Felber, W., Rauscher, C., Sperl, W., Bittner, R. E., Schmidt, W. M., Mayr, J. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295345/
https://www.ncbi.nlm.nih.gov/pubmed/35854315
http://dx.doi.org/10.1186/s13023-022-02421-7

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