autosomal recessive limb-girdle muscular dystrophy type 2B (Q27677697)
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autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13
- LGMD2B
- LGMD3
- limb-girdle muscular dystrophy due to dysferlin deficiency
- limb-girdle muscular dystrophy type 3
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive limb-girdle muscular dystrophy type 2B |
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13 |
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Statements
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C142080
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Identifiers
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1 reference