Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alternativeName |
gptkb:BMD
Bethlem muscular dystrophy |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1976
J. Bethlem |
| gptkbp:hasOrphanetID |
ORPHA:988
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bethlem myopathy
|
| gptkbp:ICD-10_code |
G71.2
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:COL6A2
gptkb:COL6A3 gptkb:COL6A1 |
| gptkbp:OMIM |
158810
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:relatedTo |
gptkb:Ullrich_congenital_muscular_dystrophy
|
| gptkbp:symptom |
muscle weakness
delayed motor milestones joint contractures hyperextensible fingers keloid formation waddling gait |
| gptkbp:treatment |
physical therapy
orthopedic interventions |
| gptkbp:bfsParent |
gptkb:COL6A1
|
| gptkbp:bfsLayer |
7
|