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
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W. Schmidt | W. Sperl | M. Freilinger | J. Mayr | R. Bittner | S. Waldmüller | I. Bader | W. Mueller-Felber | C. Rauscher | F. Landauer