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Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe congenital nemaline myopathy
4 associated genes
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Severe congenital nemaline myopathy

DES
(UniProt - OMIM)
 ACTA1
(UniProt - OMIM)
KLHL40
(UniProt - OMIM)
KLHL41
(UniProt - OMIM)
NEB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DES
(0.75)
NEB


Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
DES
Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB



Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Severe congenital nemaline myopathy

Synonym(s):
- LGMD2 due to desmin 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 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
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
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.