NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.

Abstract excerpt

Nemaline myopathy (NM) is a rare neuromuscular disorder associated with congenital or childhood-onset of skeletal muscle weakness and hypotonia, which results in limited motor function. NM is a genetic disorder and mutations in 12 genes are known to contribute to autosomal dominant or recessive forms of the disease. Recessive mutations in nebulin (NEB) are the most common cause of NM affecting about 50% of...

Topics

• Animals
• Myopathies, Nemaline
• Sarcomeres
• Zebrafish
• Muscle, Skeletal
• Mutation