Article
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
Journal of medical genetics - 1 Jun 2013
de Winter Josine Marieke, Buck Danielle, Hidalgo Carlos, Jasper Jeffrey R, Malik Fady I, Clarke Nigel F, Stienen Ger J M, Lawlor Michael W, Beggs Alan H, Ottenheijm Coen A C, Granzier Henk
Abstract excerpt
BACKGROUND: Nemaline myopathy-the most common non-dystrophic congenital myopathy-is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one. The nebulin gene codes for the giant sarcomeric protein nebulin, which plays a crucial role in skeletal muscle contractile performance. Muscle weakness is a hallmark feature of nemaline myopathy patients with nebulin...
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