limb-girdle muscular dystrophy type 2N; muscular dystrophy-dystroglycanopathy limb-girdle type C2 (LGMD2N)
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Pathology
- muscular dystrophy
- muscle biopsy shows dystrophic changes, inflammation & severely decreased alpha-dystroglycan
Genetics
- autosomal recessive
- associated with defects in POMT2
Clinical manifestations
- muscular dystrophy with onset after ambulation
- mild muscle weakness
- cognition is normal
Laboratory
- increased serum creatine kinase