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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe congenital nemaline myopathy
Hereditary proximal myopathy with early respiratory failure

ACTA1 TTN
KLHL40
KLHL41
NEB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NEB
ACTA1
(0.9)
(0.63)
TTN
TTN



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Hereditary proximal myopathy with early respiratory failure
TTN



Severe congenital nemaline myopathy
Hereditary proximal myopathy with early respiratory failure

Synonym(s):
(no synonyms)

Synonym(s):
- ADMERF
- Edström Myopathy
- HIBM-ERF
- Hereditary inclusion body myopathy with early respiratory failure
- Myofibrillar myopathy with early respiratory failure

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.