Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
muscles
|
| gptkbp:associated_with |
respiratory issues
muscle wasting cardiac problems |
| gptkbp:caused_by |
COL6 A1 gene mutation
|
| gptkbp:clinical_trial |
available
|
| gptkbp:diagnosis |
genetic testing
clinical evaluation variable severity |
| gptkbp:financial_support |
available
|
| gptkbp:first_described_by |
gptkb:1998
|
| gptkbp:genetic_studies |
recommended
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bethlem myopathy
|
| gptkbp:inherits_from |
autosomal dominant
|
| gptkbp:prevalence |
rare disorder
|
| gptkbp:related_to |
collagen VI-related myopathies
|
| gptkbp:research |
ongoing studies
|
| gptkbp:symptoms |
muscle weakness
joint contractures |
| gptkbp:treatment |
physical therapy
occupational therapy |
| gptkbp:bfsParent |
gptkb:COL6_A1
gptkb:COL6_A2 gptkb:COL6_A3 |
| gptkbp:bfsLayer |
6
|