Details of Disease
General Information of Disease (ID: DISL15RW)
Disease Name | Congenital myasthenic syndrome 3C | |||||
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Synonyms |
CMS3C; myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type 3C; congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
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Definition |
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in 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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