Disorder "Distal myopathy"
Found 1 record
Disorder information
Disorder name:
Distal myopathy
Disoder ID:
OMIM entry:
Synonyms:
Miyoshi muscular dystrophy, distal muscular dystrophy, distal myopathy
Definition:
A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| OBSCN | OBSCN:rs369758958 | Penetrance | Altered incidence | Gene activity study | the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family.more | more |
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