Nemaline myopathy (NM) is most commonly caused by recessive mutations in the nebulin gene (NEB). Nebulin is an enormous sarcomeric protein (600–900 kDa). Over 90% of the highly modular filamentous nebulin consists of super repeats, which are formed of seven simple repeats. Each super repeat has one tropomyosin-binding motif and seven actin-binding motifs. Missense mutations in NEB are common, and their effects often difficult to predict. Research into the nebulin protein has been hampered by its enormous size.

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...