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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 |
|---|---|---|---|
| 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 | |
| 1464 | CSPG4 | chondroitin sulfate proteoglycan 4 | |
| 1634 | DCN | decorin | |
| 2218 | FKTN | fukutin | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 |
Related Glycoprotein
