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Typical nemaline myopathy
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
1 OMIM reference -
1 associated gene
No signs/symptoms info
Typical nemaline myopathy
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

ACTA1
(UniProt - OMIM)
 DYNC1H1
(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)
TPM2
(0.49)
DYNC1H1


Citations in the biomedical literature:


Typical nemaline myopathy
ACTA1 CFL2 KLHL41 NEB TPM2
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
DYNC1H1



Typical nemaline myopathy
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

Synonym(s):
(no synonyms)

Synonym(s):
- Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
- SMALED1
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 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.