Merosin-deficient congenital muscular dystrophy
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
muscular dystrophy |
| gptkbp:alsoKnownAs |
MDC1A
LAMA2-related muscular dystrophy |
| gptkbp:cause |
mutation in LAMA2 gene
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1994
|
| https://www.w3.org/2000/01/rdf-schema#label |
Merosin-deficient congenital muscular dystrophy
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
607855
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:proteinDeficiency |
laminin alpha-2
|
| gptkbp:symptom |
hypotonia
muscle weakness delayed motor milestones respiratory difficulties joint contractures |
| gptkbp:treatment |
supportive care
physical therapy respiratory support |
| gptkbp:bfsParent |
gptkb:muscular_dystrophy
|
| gptkbp:bfsLayer |
6
|