Disease-gene associations mined from literature

Human genes for congenital myasthenic syndrome 4C

Congenital myasthenic syndrome 4C [DOID:0110679]

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

Synonyms:  congenital myasthenic syndrome 4C,  DOID:0110679,  CMS1D,  CMS4C,  CMS Id ...