Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)

@article{Duggan1997MutationsIT,
  title={Mutations in the δ-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)},
  author={David Michael Duggan and David J Manchester and Karen P. Stears and Dennis J. Mathews and Carolyn King Hart and Eric P. Hoffman},
  journal={Neurogenetics},
  year={1997},
  volume={1},
  pages={49-58}
}
The dystrophin-based membrane cytoskeleton of muscle fibers has emerged as a critical multiprotein complex which seems to impart structural integrity on the muscle fiber plasma membrane. Deficiency of dystrophin causes the most common types of muscular dystrophy, Duchenne and Becker muscular dystrophies. Muscular dystrophy patients showing normal dystrophin protein and gene analysis are generally isolated cases with a presumed autosomal recessive inheritance pattern (limb-girdle muscular… CONTINUE READING
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