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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:0003803 | Type 1 muscle fiber predominance |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0010628 | Facial palsy |
| HP:0002792 | Reduced vital capacity |
| HP:0000961 | Cyanosis |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0000218 | High palate |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003722 | Neck flexor weakness |
| HP:0001446 | Abnormality of the musculature of the upper limbs |
