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limb-girdle muscular dystrophy type 1B (LGMD1B)
Pathology:
- muscle biopsy shows mild dystrophic changes
Genetics:
- autosomal dominant
- associated with defect in LMNA gene
Clinical manifestations:
1) progressive weakness of the pelvic girdle & shoulder girdle muscles
2) age-related atrioventricular cardiac conduction disturbances
3) absence of early contractures
Database Correlations
OMIM 159001
References
OMIM :accession 159001