Details of Disease
General Information of Disease (ID: DISCEFP2)
Disease Name | Congenital myasthenic syndrome 3A | |||||
---|---|---|---|---|---|---|
Synonyms | myasthenic syndrome, congenital, 3A, slow-channel; congenital myasthenic syndrome 3A, slow-channel; CMS3A; congenital myasthenic syndrome type 3A | |||||
Definition |
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.
|
|||||
Disease Hierarchy | ||||||
Disease Identifiers | ||||||
Molecular Interaction Atlas (MIA) of This Disease
Molecular Interaction Atlas (MIA) | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
This Disease Is Related to 1 DOT Molecule(s)
|
|||||||||||||||||||||||||