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MIRAGE
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 |
|---|---|---|
| P24043 | Laminin subunit alpha-2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8R145 | Lama2 protein (Fragment) |
