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Autosomal recessive limb-girdle muscular dystrophy type 2H
1 OMIM reference -
1 associated gene
17 connected diseases
7 signs/symptoms
Disease Type of connection
Bardet-Biedl syndrome
Spinocerebellar ataxia type 1
Papillary or follicular thyroid carcinoma
Hermansky-Pudlak syndrome type 7
Acute megakaryoblastic leukemia without Down syndrome
Juvenile autosomal recessive medullary cystic kidney disease
Pediatric systemic lupus erythematosus
Feingold syndrome type 1
Neuroblastoma
X-linked lymphoproliferative disease
17p13.3 microduplication syndrome
Acute promyelocytic leukemia
Distal 17p13.3 microdeletion syndrome
MALT lymphoma
Miller-Dieker syndrome
Pseudohypoaldosteronism type 2E
X-linked non-syndromic intellectual deficit
Synonym(s):
- LGMD2H
- Limb-girdle muscular dystrophy due to TRIM32 deficiency
- Sarcotubular myopathy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TRIM32 Q13049602290
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