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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Hereditary proximal myopathy with early respiratory failure
Autosomal recessive centronuclear myopathy

TTN BIN1
TTN


COMMON
GENES
TTN



Citations in the biomedical literature:


Hereditary proximal myopathy with early respiratory failure
TTN
Autosomal recessive centronuclear myopathy
BIN1



Hereditary proximal myopathy with early respiratory failure
Autosomal recessive centronuclear myopathy

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

Synonym(s):
- AR-CNM

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: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
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.