X-linked myotubular myopathy
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
XLMTM
|
| gptkbp:category |
muscular dystrophy
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1966
|
| gptkbp:frequency |
1 in 50,000 male births
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked myotubular myopathy
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
MTM1 gene
|
| gptkbp:namedAfter |
myotubular structures in muscle fibers
|
| gptkbp:onset |
neonatal
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable, often severe
|
| gptkbp:symptom |
hypotonia
muscle weakness respiratory difficulties |
| gptkbp:treatment |
supportive care
ventilatory support |
| gptkbp:bfsParent |
gptkb:virus
|
| gptkbp:bfsLayer |
5
|