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Autosomal recessive limb-girdle muscular dystrophy type 2B
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Typical nemaline myopathy
5 associated genes
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2B
Typical nemaline myopathy

DYSF
(UniProt - OMIM)
 ACTA1
(UniProt - OMIM)
CFL2
(UniProt - OMIM)
KLHL41
(UniProt - OMIM)
NEB
(UniProt - OMIM)
TPM2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DYSF
(0.65)
NEB


Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2B
DYSF
Typical nemaline myopathy
ACTA1 CFL2 KLHL41 NEB TPM2



Autosomal recessive limb-girdle muscular dystrophy type 2B
Typical nemaline myopathy

Synonym(s):
- LGMD2B
- Limb-girdle muscular dystrophy due to dysferlin deficiency
Synonym(s):
(no synonyms)
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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.