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Congenital myasthenic syndrome 4C

Synonyms
GFPT1-Related Congenital Myasthenic Syndrome; MUSK-Related Congenital Myasthenic Syndrome; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; Myasthenic syndrome, congenital, postsynaptic, associated with acetylcholine receptor deficiency

Summary

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized 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. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (100730) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

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Clinical tests (70 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, FIM1, FIMG, FIMG1, MGI, SCCMS, CHRNE
    Summary: cholinergic receptor nicotinic epsilon subunit

  • Also known as: CMS12, CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG, GFPT1
    Summary: glutamine--fructose-6-phosphate transaminase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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