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| Term | congenital myasthenic syndrome 4A | ID (Ontology) | DOID:0110678 (Human Disease) |
| Definition | A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. | ||
| Also Known As | "CMS Ia1" ; "CMS1A1" ; "CMS4A" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal dominant disease______ |__autosomal recessive disease_____| physical disorder | |__congenital myasthenic syndrome__| neuromuscular junction disease | |__congenital myasthenic syndrome__| congenital myasthenic syndrome 4A |
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autosomal dominant disease autosomal recessive disease congenital myasthenic syndrome |
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| MIM:605809 | |||