| Metadata | |
|---|---|
| ID | DOID:0110298 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2N |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/17878207 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD2N [EXACT] MDDGC2 [EXACT] muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2 [EXACT] muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related [EXACT] |
| Parent Relationships |