DISEASES

Disease-gene associations mined from literature

Human genes for Ullrich congenital muscular dystrophy

Ullrich congenital muscular dystrophy [DOID:0050558]

A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.

Synonyms:  Ullrich congenital muscular dystrophy,  DOID:0050558,  Ullrich congenital muscular dystrophies,  ULLRICH DISEASE,  Ullrich scleroatonic muscular dystrophy ...

Linkouts:  OMIM