DISEASES

Disease-gene associations mined from literature

Human genes for muscular dystrophy-dystroglycanopathy

Muscular dystrophy-dystroglycanopathy [DOID:0050588]

A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.

Synonyms:  muscular dystrophy-dystroglycanopathy,  DOID:0050588,  muscular dystrophydystroglycanopathy,  muscular dystrophy-dystroglycanopathies,  CMD due to dystroglycanopathy ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8