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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3098 | HK1 | hexokinase 1 | |
| 4534 | MTM1 | myotubularin 1 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 64419 | MTMR14 | myotubularin related protein 14 |
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 |
