autosomal recessive limb-girdle muscular dystrophy type 2O (Q1531337)
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autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34
- LGMD2O
- MDDGC3
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
- muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
- Muscular Dystrophy, Limb-Girdle, Type 2O
- Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive limb-girdle muscular dystrophy type 2O |
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34 |
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Wikipedia(1 entry)
- dewiki Gliedergürteldystrophie 2O