OBO ID: DOID:0110668
Term Name: congenital myasthenic syndrome 10 Search Ontology:
Synonyms:
  • CMS10
  • CMS1B
  • LGM
Definition: A congenital myasthenic syndrome characterized by autosomal 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 4p. (2)
References:
Ontology: Human Disease   (DOID:0110668)
OTHER congenital myasthenic syndrome 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DOK7 Myasthenic syndrome, congenital, 10 254300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None