Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2N |
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Synonyms: | LGMD2N, MDDGC2, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2, muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related |
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. |
Ontology: | Human Disease [DOID:0110298] ( DOID:0110298 ) |