Original paper
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
Abstract
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 and hypertrophic...
Paper Details
Title
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
Published Date
Oct 1, 1999
Journal
Volume
23
Issue
2
Pages
208 - 212
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Notes
History