Human genes for congenital myasthenic syndrome 19
Congenital myasthenic syndrome 19 [DOID:0110673]
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.
Synonyms: congenital myasthenic syndrome 19, DOID:0110673, CMS19