Search Ontology:
Human Disease

congenital myasthenic syndrome 14

Term ID
DOID:0110669
Synonyms
  • CMS14
  • CMSTA3
  • congenital myasthenic syndrome 14, with tubular aggregates
  • congenital myasthenic syndrome with tubular aggregates 3
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (2)
References
Ontology
Human Disease   ( DOID:0110669 )
Relationships
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Genes Involved
Zebrafish Models