Disorder "Myostatin-Related Muscle Hypertrophy"
Found 1 record
Disorder information
Disorder name:
Myostatin-Related Muscle Hypertrophy
Disoder ID:
OMIM entry:
Synonyms:
MSLHP
Definition:
A muscle tissue disease characterized by increased muscle bulk and strength that has material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MSTN | MSTN:c.378G>A | Expressivity | Risk factor | Gene activity study | Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Childmore | more |
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