Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:causedBy |
mutation in MYH7 gene
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:eponymOf |
gptkb:Laing
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Laing distal myopathy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
160500
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:symptom |
muscle weakness
foot drop difficulty walking on heels weakness of ankle dorsiflexion weakness of finger extensors |
| gptkbp:synonym |
Laing early-onset distal myopathy
distal myopathy with early ankle dorsiflexor weakness |
| gptkbp:treatment |
supportive care
physical therapy |
| gptkbp:bfsParent |
gptkb:MYH7_(human)
|
| gptkbp:bfsLayer |
7
|