Article
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 - 19 Jul 2022
Bader Ingrid, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner R E, Schmidt W M, Mayr J A
Abstract excerpt
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 weakness as the predominant manifestation. Here we describe two unrelated patients harboring an in-frame deletion in...
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