Kw 1060
cv_term_accession
KW-1060
canonical
uniprot_keyword
KW-1060
canonical
name
Myofibrillar myopathy
uniprot
definition
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.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords