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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 2C

Congenital myasthenic syndrome 2C

Synonyms
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency

Summary

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized clinically by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

23 tests are in the database for this condition.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS, CHRNB1
    Summary: cholinergic receptor nicotinic beta 1 subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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