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congenital myasthenic syndrome 10
Summary
- Synonym
-
- CMS10
- LGM
- congenital muscular dystrophy merosin-positive
- familial limb-girdle myasthenia
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110668
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002878 | Respiratory failure |
| HP:0012764 | Orthopnea |
| HP:0001324 | Muscle weakness |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0000597 | Ophthalmoparesis |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| HP:0002329 | Drowsiness |
| HP:0000496 | Abnormality of eye movement |
| HP:0003388 | Easy fatigability |
