Congenital myasthenic syndrome
cv_term_accession
KW-1004
canonical
uniprot_keyword
KW-1004
canonical
name
Congenital myasthenic syndrome
uniprot
synonym
CMS
uniprot
definition
Protein which, if defective, causes congenital myasthenic syndrome. Congenital myasthenic syndromes constitute a group of inherited diseases characterized by a congenital defect in neuromuscular transmission at the neuromuscular junction, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords