Abstract
DUCHENNE muscular dystrophy (DuD) is the severe form of heredo-familial muscular dystrophy inherited as a sex linked recessive trait. The primary clinical manifestations are progressive muscle weakness usually starting in the pelvic girdle accompanied by hypertrophy in the calf musculature. Significant cardiac abnormalities and mental retardation have also been reported. The primary inherited metabolic defect is unknown1. Elevated levels of muscle enzyme activities in the serum and their depletion in the muscle tissue have, however, long pointed to an abnormality in the plasma membrane as the probable site of the genetic defect.
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References
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ROSES, A., HERBSTREITH, M. & APPEL, S. Membrane protein kinase alteration in Duchenne muscular dystrophy. Nature 254, 350–351 (1975). https://doi.org/10.1038/254350a0
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DOI: https://doi.org/10.1038/254350a0
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