autosomal recessive limb-girdle muscular dystrophy type 2Y (Q27429768)
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autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24
- LGMD2Y
- autosomal recessive muscular dystrophy due to LAP1B deficiency
- autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
- muscular dystrophy with progressive weakness, distal contractures and rigid spine
- muscular dystrophy, limb-girdle, type 2Y
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive limb-girdle muscular dystrophy type 2Y |
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24 |
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