Limb-girdle muscular dystrophy type 2 F
GPTKB entity
Statements (55)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:muscular_dystrophy
|
| gptkbp:affects |
skeletal muscles
|
| gptkbp:associated_with |
gptkb:Cardiology
fatigue respiratory issues muscle cramps scoliosis joint contractures gait abnormalities cardiac issues progressive muscle weakness reduced life expectancy |
| gptkbp:breeding_range |
chromosome 13
|
| gptkbp:caused_by |
mutations in the SGCG gene
|
| gptkbp:clinical_trial |
gptkb:Phase_4
Phase 1 Phase 2 Phase 3 difficulty climbing stairs difficulty lifting objects difficulty running onset in childhood or adolescence progressive weakness of proximal muscles shoulder and pelvic girdle weakness |
| gptkbp:condition |
gptkb:Limb-girdle_muscular_dystrophy_type_2_C
gptkb:Limb-girdle_muscular_dystrophy_type_2_D gptkb:Limb-girdle_muscular_dystrophy_type_2_E Limb-girdle muscular dystrophy type 2 A Limb-girdle muscular dystrophy type 2 B |
| gptkbp:diagnosis |
gptkb:MRI
genetic testing muscle biopsy |
| gptkbp:financial_support |
support groups
online communities patient advocacy groups |
| gptkbp:first_described_by |
in the 1990s
|
| gptkbp:gene_function |
encodes a protein called gamma-sarcoglycan
|
| https://www.w3.org/2000/01/rdf-schema#label |
Limb-girdle muscular dystrophy type 2 F
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:nutritional_value |
part of the dystrophin-glycoprotein complex
|
| gptkbp:prevalence |
rare
|
| gptkbp:promoter |
SGCG
|
| gptkbp:research_areas |
gptkb:Genetics
therapeutic interventions neuromuscular disorders muscle biology |
| gptkbp:research_focus |
gptkb:gene_therapy
clinical trials |
| gptkbp:symptoms |
muscle weakness
muscle wasting |
| gptkbp:treatment |
physical therapy
supportive care occupational therapy |
| gptkbp:bfsParent |
gptkb:sarcoglycan_complex
|
| gptkbp:bfsLayer |
7
|