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Human Disease

congenital myasthenic syndrome 10

Term ID
DOID:0110668
Synonyms
  • CMS10
  • CMS1B
  • congenital muscular dystrophy merosin-positive
  • LGM
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 4p16.3. (3)
References
Ontology
Human Disease   ( DOID:0110668 )
Relationships
is a type of
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Genes Involved
Zebrafish Models