OBO ID: DOID:0110673
Term Name: congenital myasthenic syndrome 19 Search Ontology:
Synonyms:
  • CMS19
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/26626625
References:
Ontology: Human Disease   (DOID:0110673)
OTHER congenital myasthenic syndrome 19 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL13A1 Myasthenic syndrome, congenital, 19 616720
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None