congenital myasthenic syndrome 2C

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 compound

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 compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.

Signs and symptoms

• Feeding difficulties
• Respiratory insufficiency
• EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
• Myopathy
• Hypotonia
• Neonatal hypotonia
• Muscle weakness
• Anti-neuromuscular Junction acetylcholine receptor antibody positivity

Also known as: CMS2C; congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency