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

• OMIM:616720

Ontology

Human Disease   ( DOID:0110673 )