limb-girdle muscular dystrophy type 2I (LGMD2I)
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Pathology
- diminished alpha-dystroglycan & laminin alpha-2 expression can be observed on skeletal muscle biopsy
Genetics
- autosomal recessive
- associated with defects in FKRP gene
Clinical manifestations
- age of onset ranging from childhood to adult
- variable severity
- proximal muscle weakness
- waddling gait
- calf hypertrophy
- cardiomyopathy
- respiratory insufficiency