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| Term | congenital myasthenic syndrome 10 | ID (Ontology) | DOID:0110668 (Human Disease) |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16. | ||
| Also Known As | "CMS10" ; "congenital muscular dystrophy merosin-positive" ; "familial limb-girdle myasthenia" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal recessive disease_____ physical disorder | |__congenital myasthenic syndrome__| neuromuscular junction disease | |__congenital myasthenic syndrome__| congenital myasthenic syndrome 10 |
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autosomal recessive disease congenital myasthenic syndrome |
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| MIM:254300 | |||