congenital myasthenic syndrome 4A
Findings
No curated finding names congenital myasthenic syndrome 4A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
Definition from the Mondo Disease Ontology (MONDO:0011600), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
1 feature
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
- 1 of 1 reported patient
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 dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: congenital myasthenic syndrome 4A
- Also called
- CMS4Acongenital myasthenic syndrome type 4A