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Human Disease

congenital myasthenic syndrome 19

Term ID
DOID:0110673
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 )
Relationships
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Genes Involved
Zebrafish Models