Emery-Dreifuss muscular dystrophy
cv_term_accession
KW-1067
canonical
uniprot_keyword
KW-1067
canonical
name
Emery-Dreifuss muscular dystrophy
uniprot
synonym
Scapuloperoneal muscular dystrophy
uniprot
definition
Protein which, if defective, causes Emery-Dreifuss muscular dystrophy, a heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by slowly progressive muscle weakness, contracture of the elbows, Achilles tendon and posterior cervical muscles, and cardiac features.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
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uniprot
keywords