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

• progressive weakness of the pelvic girdle & shoulder girdle muscles
• age-related atrioventricular cardiac conduction disturbances
• absence of early contractures

More general terms

• limb-girdle muscular dystrophy; Erb's muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/159001