Ullrich congenital muscular dystrophy
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
children
|
| gptkbp:causedBy |
mutation in COL6A1 gene
mutation in COL6A2 gene mutation in COL6A3 gene |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1930
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ullrich congenital muscular dystrophy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:namedAfter |
Otto Ullrich
|
| gptkbp:OMIM |
254090
|
| gptkbp:symptom |
muscle weakness
respiratory difficulties joint contractures hyperflexible joints |
| gptkbp:treatment |
supportive care
physical therapy respiratory support |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
6
|