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Repository for lectin-assisted multimodality data
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congenital muscular dystrophy
Summary
- Definition
- A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
- Super Class
- muscular dystrophy physical disorder
External Links
- Disease Ontology
- DOID:0050557
- Mondo Disease Ontology
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99K31 | Col6a3 protein (Fragment) |
