Ullrich congenital muscular dystrophy

Term ID

DOID:0050558

Synonyms

ULLRICH DISEASE
Ullrich scleroatonic muscular dystrophy

Definition

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. https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy

References

GARD:4769
OMIM:254090

Ontology

Human Disease ( DOID:0050558 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease congenital muscular dystrophy

autosomal dominant disease autosomal recessive disease congenital muscular dystrophy Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations