Details of Disease
General Information of Disease (ID: DISCENXT)
Disease Name | Congenital myasthenic syndrome 3B | |||||
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Synonyms | myasthenic syndrome, congenital, 3B, FAST-channel; CMS3B; congenital myasthenic syndrome type 3B; congenital myasthenic syndrome 3B, fast-channel | |||||
Definition |
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
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Disease Hierarchy | ||||||
Disease Identifiers | ||||||
Molecular Interaction Atlas (MIA) of This Disease
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This Disease Is Related to 1 DOT Molecule(s)
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