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nemaline myopathy 11
Summary
- Synonym
-
- NEM11
- nemaline myopathy 11, autosomal recessive
- Definition
- A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110933
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001623 | Breech presentation |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0001265 | Hyporeflexia |
| HP:0002483 | Bulbar signs |
| HP:0000347 | Micrognathia |
| HP:0002067 | Bradykinesia |
| HP:0002792 | Reduced vital capacity |
| HP:0001349 | Facial diplegia |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0003803 | Type 1 muscle fiber predominance |
