Recessive MYH7-related myopathy in two families

Mutations in MYH7 cause a wide range of cardiac and skeletal muscle diseases, including both dilated and hypertrophic cardiomyopathy (MIM 613426, MIM192600), left ventricular non-compaction (MIM 613426), dominant and recessive myosin storage myopathy (MSM, MIM 608358, MIM 255160), Laing distal myopathy (MIM 160500), scapuloperoneal myopathy (MIM 181430) [1,2], and subgroups of congenital myopathies with characteristic histopathological features such as multi-minicores [3] and myofiber type disproportion with small type I myofibers [4].

Source: Neuromuscular Disorders - April 11, 2019 Category: Neurology Authors: Sarah J. Beecroft, Martijn van de Locht, Josine M. de Winter, Coen A. Ottenheijm, Caroline A. Sewry, Shehla Mohammed, Monique M. Ryan, Ian R. Woodcock, Lauren Sanders, Rebecca Gooding, Mark R. Davis, Emily C. Oates, Nigel G. Laing, Gianina Ravenscroft, Ca Source Type: research