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congenital muscular dystrophy 1B
Summary
- Synonym
-
- CMD1B
- MDC1B
- congenital muscular dystrophy type 1B
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
- Super Class
- autosomal recessive disease congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0110634
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 952 | CD38 | CD38 molecule | |
| 1120 | CHKB | choline kinase beta | |
| 1272 | CNTN1 | contactin 1 | |
| 2218 | FKTN | fukutin | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3098 | HK1 | hexokinase 1 | |
| 4534 | MTM1 | myotubularin 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12860 | Contactin-1 | |
| Q13085 | Acetyl-CoA carboxylase 1 | |
| Q8NCE2 | Myotubularin-related protein 14 | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
