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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
No signs/symptoms info
Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant macrothrombocytopenia

MYOT ACTN1
ITGA2B
ITGB3
TUBB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MYOT
(0.84)
ACTN1



Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1A
MYOT
Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1



Autosomal dominant limb-girdle muscular dystrophy type 1A
Autosomal dominant macrothrombocytopenia

Synonym(s):
- LGMD1A
- Limb-girdle muscular dystrophy due to myotilin deficiency

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
No MeSH references

No signs/symptoms info available.