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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal dominant limb-girdle muscular dystrophy type 1F
Combined oxidative phosphorylation defect type 17

TNPO3 ELAC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TNPO3
(0.63)
ELAC2



Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1F
TNPO3
Combined oxidative phosphorylation defect type 17
ELAC2



Autosomal dominant limb-girdle muscular dystrophy type 1F
Combined oxidative phosphorylation defect type 17

Synonym(s):
- LGMD1F

Synonym(s):
- COXPD17

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.