Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane.

@article{SadouletPuccio1996CloningAC,
  title={Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane.},
  author={H{\'e}l{\`e}ne M. Sadoulet-Puccio and Tejvir S Khurana and Justus B Cohen and Louis M. Kunkel},
  journal={Human molecular genetics},
  year={1996},
  volume={5 4},
  pages={489-96}
}
Dystrophin is the protein product which is absent in Duchenne muscular dystrophy (DMD). In mammalian skeletal muscle, dystrophin is found in association with several integral and peripheral membrane proteins, forming a complex known as the dystrophin glycoprotein complex (DGC). In an expressed sequence tag (EST) database search to identify new dystrophin related genes, we isolated EST00891 which showed 57% homology to the cysteine-rich domain of dystrophin and localized to 18q12.1-12.2. This… CONTINUE READING

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Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy

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