Disorder "Duchenne Muscular Dystrophy"
Found 11 records
Disorder information
Disorder name:
Duchenne Muscular Dystrophy
Disoder ID:
OMIM entry:
Definition:
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Modifier statisitcs
Record:
11
Gene:
7
Variant:
10
Reference:
3
Effect type:
Expressivity(10)
,Penetrance(1)
Modifier effect:
Altered membrane damage and fibrosis(4)
,Altered response to exercise and injury(2)
,Altered SPP1 expression level(1)
,Altered grip strength(1)
,Altered incidence(1)
,Altered severity(1)
,Modify the abdominal muscles(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ACTN3 | ACTN3:c.1729C>T(p.Arg577*) | Penetrance | Altered incidence | Study on animal models | The α-actinin-3 deficiency triggers an increase in oxidative muscle metabolism through activation of calcineurin, which likely confers the protective effect. ACTN3 R577X genotype is a modifier of clinical phenotype in DMD patients.more | more |