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| Term | congenital myasthenic syndrome 4B | ID (Ontology) | DOID:0110677 (Human Disease) |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. | ||
| Also Known As | "CMS4B" ; "congenital myasthenic syndrome 4B fast-channel" | ||
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autosomal genetic disease |__autosomal recessive disease_____ physical disorder | |__congenital myasthenic syndrome__| neuromuscular junction disease | |__congenital myasthenic syndrome__| congenital myasthenic syndrome 4B |
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autosomal recessive disease congenital myasthenic syndrome |
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| MIM:616324 | |||