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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
Autosomal recessive limb-girdle muscular dystrophy type 2M
Proximal myotonic myopathy

FKTN CNBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FKTN
(0.63)
CNBP



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2M
FKTN
Proximal myotonic myopathy
CNBP



Autosomal recessive limb-girdle muscular dystrophy type 2M
Proximal myotonic myopathy

Synonym(s):
- LGMD2M

Synonym(s):
- Myotonic dystrophy type 2
- Proximal myotonic dystrophy
- Ricker disease
- Ricker syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare infertility
- 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: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D020967

Proximal myotonic myopathy

Very frequent
- Autosomal dominant inheritance
- Cataract / lens opacification
- Myotonia



Autosomal recessive limb-girdle muscular dystrophy type 2M

(no data available)