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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Autosomal recessive limb-girdle muscular dystrophy type 2H
Distal 17p13.3 microdeletion syndrome

TRIM32 YWHAE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TRIM32
(0.63)
YWHAE



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32
Distal 17p13.3 microdeletion syndrome
YWHAE



Autosomal recessive limb-girdle muscular dystrophy type 2H
Distal 17p13.3 microdeletion syndrome

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

Synonym(s):
- Distal del(17)(p13.3 )
- Distal monosomy 17p13.3

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

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



Distal 17p13.3 microdeletion syndrome

(no data available)