congenital myasthenic syndrome 4B
Findings
No curated finding names congenital myasthenic syndrome 4B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
Definition from the Mondo Disease Ontology (MONDO:0014586), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 4 of 4 reported patients
- Fatigable weakness of skeletal musclesHPOHP:0030197
- 2 of 2 reported patients
- OphthalmoplegiaHPOHP:0000602
- 4 of 4 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 4 of 4 reported patients
- Anti-neuromuscular Junction acetylcholine receptor antibody positivityHPOHP:0030208
- 0 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CHRNEHGNC:1966
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
- A kind of
Other names
2 names
Resolves to: congenital myasthenic syndrome 4B
- Also called
- CMS4Bcongenital myasthenic syndrome type 4B