Recessive MYH7-related myopathy in two families

Beecroft, SJ; van de Locht, M; de Winter, JM; Ottenheijm, CA; Sewry, CA; Mohammed, S; Ryan, MM; Woodcock, IR; Sanders, L; Gooding, R; Davis, MR; Oates, EC; Laing, NG; Ravenscroft, G; McLean, CA; Jungbluth, H

Beecroft, SJ (reprint author), Univ Western Australia, Ctr Med Res, Harry Perkins Inst Med Res, QEII Med Ctr, Nedlands, WA 6009, Australia.

NEUROMUSCULAR DISORDERS, 2019; 29 (6): 456

Abstract

Myopathies due to recessive MYH7 mutations are exceedingly rare, reported in only two families to date. We describe three patients from two families (......

Full Text Link