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Congenital myasthenic syndrome 4C(CMS4C)

MedGen UID:
373251
Concept ID:
C1837091
Disease or Syndrome
Synonyms: CMS4C; 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
 
CHRNE (17p13.2); GFPT1 (2p13.3)
 
Monarch Initiative: MONDO:0012157
OMIM®: 608931

Definition

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]

Clinical features

From HPO

Supplemental Content

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