Article
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nature genetics - 1 Oct 1999
Nowak K J, Wattanasirichaigoon D, Goebel H H, Wilce M, Pelin K, Donner K, Jacob R L, Hübner C, Oexle K, Anderson J R, Verity C M, North K N, Iannaccone S T, Müller C R, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson A G, Swoboda K J, Vigneron J, Wallgren-Pettersson C, Beggs A H, Laing N G
Abstract excerpt
Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy...
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