muscular dystrophy-dystroglycanopathy type C12

Term ID

DOID:0112381

Synonyms

• LGMD due to POMK deficiency
• Limb-girdle muscular dystrophy due to POMK deficiency
• MDDGC12
• muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related

Definition

A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/24925318/

References

• OMIM:616094
• ORDO:445110

Ontology

Human Disease   ( DOID:0112381 )