autosomal recessive limb-girdle muscular dystrophy type 2T

Term ID

DOID:0110294

Synonyms

• LGMD2T
• MDDGC14
• muscular dystrophy limb-girdle type 2T
• muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
• muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23768512

References

• ICD10CM:G71.0
• OMIM:615352
• ORDO:363623

Ontology

Human Disease   ( DOID:0110294 )