Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital merosin-deficient muscular dystrophy 1A
Summary
- Synonym
-
- CMD1A
- MDC1A
- Merosin-negative congenital muscular dystrophy
- congenital muscular dystrophy due to laminin alpha2 deficiency
- Definition
- A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
- Super Class
- autosomal recessive disease congenital muscular dystrophy
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54646 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | |
| Q04446 | 1,4-alpha-glucan-branching enzyme | |
| Q12860 | Contactin-1 | |
| Q13085 | Acetyl-CoA carboxylase 1 | |
| Q6UVK1 | Chondroitin sulfate proteoglycan 4 | |
| Q8NCE2 | Myotubularin-related protein 14 | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
