(Q1002195)
English
autosomal recessive limb-girdle muscular dystrophy type 2K
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)
- LGMD2K
- MDDGC1
- limb-girdle muscular dystrophy-intellectual disability syndrome
- muscular dystrophy limb-girdle type 2K
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
- Muscular Dystrophy, Limb-Girdle, Type 2K
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
Statements
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C133730
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Identifiers
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Sitelinks
Wikipedia(1 entry)
- dewiki Gliedergürteldystrophie 2K