Desmin-related myopathy
cv_term_accession
KW-0911
canonical
uniprot_keyword
KW-0911
canonical
name
Desmin-related myopathy
uniprot
definition
Protein which, if defective, causes desmin-related myopathy (DRM), a clinically and genetically heterogeneous group of muscular disorders defined morphologically by intrasarcoplasmic aggregates of desmin, usually accompanied by other protein aggregates. Both autosomal dominant and autosomal recessive inheritance have been reported. Approximately one-third of DRMs are thought to be caused by mutations in the desmin gene.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords