Limb-girdle muscular dystrophy type 2 D
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
skeletal muscles
|
| gptkbp:associated_with |
gptkb:Cardiology
joint contractures gait abnormalities progressive muscle weakness |
| gptkbp:breeding_range |
chromosome 13
|
| gptkbp:caused_by |
mutation in the SGCG gene
|
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:first_described_by |
in the 1990s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Limb-girdle muscular dystrophy type 2 D
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptoms |
muscle weakness
muscle wasting |
| gptkbp:treatment |
physical therapy
supportive care occupational therapy |
| gptkbp:bfsParent |
gptkb:sarcoglycan_complex
|
| gptkbp:bfsLayer |
7
|