Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
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 mutation in MYH7 gene |
| gptkbp:characterizedBy |
multiple minicores in muscle fibers
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1971
|
| https://www.w3.org/2000/01/rdf-schema#label |
minicore myopathy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
255320
|
| gptkbp:symptom |
hypotonia
muscle weakness scoliosis delayed motor development respiratory insufficiency |
| gptkbp:bfsParent |
gptkb:multiminicore_disease
|
| gptkbp:bfsLayer |
7
|