autosomal recessive limb-girdle muscular dystrophy type 2N

Term ID

DOID:0110298

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. https://www.ncbi.nlm.nih.gov/pubmed/17878207

References

• ICD10CM:G71.0
• OMIM:613158
• ORDO:206559

Ontology

Human Disease   ( DOID:0110298 )