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congenital structural myopathy
Summary
- Definition
- A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
- Super Class
- congenital myopathy physical disorder
External Links
- Disease Ontology
- DOID:422
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 952 | CD38 | CD38 molecule | |
| 1103 | CHAT | choline O-acetyltransferase | |
| 1120 | CHKB | choline kinase beta | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 2218 | FKTN | fukutin | |
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 4534 | MTM1 | myotubularin 1 | |
| 5016 | OVGP1 | oviductal glycoprotein 1 |
Related Glycoprotein
