Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
muscular dystrophy
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:causedBy |
mutation in MEGF10 gene
mutation in RYR1 gene mutation in SEPN1 gene mutation in TTN gene |
| gptkbp:characteristic |
multiple small cores in muscle fibers
|
| gptkbp:complication |
respiratory failure
spinal deformities joint contractures |
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasOrphanetID |
ORPHA:365
|
| https://www.w3.org/2000/01/rdf-schema#label |
multiminicore disease
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
255320
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hypotonia
muscle weakness scoliosis respiratory insufficiency |
| gptkbp:synonym |
gptkb:minicore_myopathy
gptkb:multicore_myopathy |
| gptkbp:treatment |
supportive care
physical therapy respiratory support |
| gptkbp:bfsParent |
gptkb:RYR1
|
| gptkbp:bfsLayer |
6
|