DISEASES

Disease-gene associations mined from literature

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