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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
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q86TC9 | Myopalladin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5DTJ9 | Myopalladin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002067 | Bradykinesia |
| HP:0002068 | Neuromuscular dysphagia |
| HP:0002312 | Clumsiness |
| HP:0002355 | Difficulty walking |
| HP:0002483 | Bulbar signs |
| HP:0002515 | Waddling gait |
| HP:0002650 | Scoliosis |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002792 | Reduced vital capacity |
| HP:0002804 | Arthrogryposis multiplex congenita |
