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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Early-onset myopathy with fatal cardiomyopathy
Central core disease

TTN RYR1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TTN
(0.63)
RYR1



Citations in the biomedical literature:


Early-onset myopathy with fatal cardiomyopathy
TTN
Central core disease
RYR1



Early-onset myopathy with fatal cardiomyopathy
Central core disease

Classification (Orphanet):
- Rare cardiac disease
- 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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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

Central core disease

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal dominant inheritance
- Hypotonia
- Myopathy



Early-onset myopathy with fatal cardiomyopathy

(no data available)