autosomal recessive limb-girdle muscular dystrophy type 2T (Q27677713)
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autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21
- LGMD2T
- MDDGC14
- muscular dystrophy limb-girdle type 2T
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
- muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
- Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related
- Muscular Dystrophy, Limb-Girdle, Type 2T
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive limb-girdle muscular dystrophy type 2T |
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21 |
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