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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2H
Spinocerebellar ataxia type 1

TRIM32 ATXN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRIM32
(0.75)
ATXN1



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32
Spinocerebellar ataxia type 1
ATXN1



Autosomal recessive limb-girdle muscular dystrophy type 2H
Spinocerebellar ataxia type 1

Synonym(s):
- LGMD2H
- Limb-girdle muscular dystrophy due to TRIM32 deficiency
- Sarcotubular myopathy

Synonym(s):
- SCA1

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: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

Autosomal recessive limb-girdle muscular dystrophy type 2H

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Expressionless face / amimia
- Myopathy

Frequent
- Tall stature / gigantism / growth acceleration



Spinocerebellar ataxia type 1

(no data available)