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Human Disease

congenital myasthenic syndrome 13

Term ID
DOID:0110676
Synonyms
  • CMS13
  • CMSTA2
  • congenital myasthenic syndrome 13 with tubular aggregates
  • congenital myasthenic syndrome with tubular aggregates 2
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (2)
References
Ontology
Human Disease   ( DOID:0110676 )
Relationships
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Genes Involved
Zebrafish Models