Limb-girdle muscular dystrophy type 2 C
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
skeletal muscles
|
| gptkbp:associated_with |
difficulty walking
progressive muscle weakness pelvic girdle weakness shoulder girdle weakness |
| gptkbp:caused_by |
mutations in the CAPN3 gene
|
| gptkbp:diagnosis |
genetic testing
|
| https://www.w3.org/2000/01/rdf-schema#label |
Limb-girdle muscular dystrophy type 2 C
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:premiered_on |
childhood or early adulthood
|
| 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
|