and show a positive Gowers' sign. Cardiac involvement in the form of dilated or hypertrophic cardiomyopathy and dysrhythmias are present in LGMD 2C-F, 2I, 2W, 2X, 1B, and 1E. At some stage, when upper arm muscles are involved, all subtypes may also have respiratory muscle weakness with nocturnal hypoventilation, in particular type 2I where it is noted from an earlier stage. Additional clinical features
Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from the loss of dystrophin and the sarcoglycans, respectively. Dystrophin, a cytoskeletal protein, is closely associated with the membrane-bound sarcoglycan complex. Despite this tight biochemical