Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Keyword - Myofibrillar myopathy (KW-1060)

Keywords navigation



Protein which, if defective, causes myofibrillar myopathy, a group of morphologically homogeneous, but genetically heterogeneous neuromuscular disorders. The morphologic changes in skeletal muscle result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc. Clinical manifestations are variable and can involve the skeletal, cardiac and smooth muscle.




Myofibrillar myopathyDisease
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again