SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?

@article{Ritz2011SGCEIC,
  title={SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?},
  author={Katja Ritz and Barbera D. C. van Schaik and Marja E. Jakobs and Antoine H. C. van Kampen and E. Aronica and Marina A.J Tijssen and Frank Baas},
  journal={European Journal of Human Genetics},
  year={2011},
  volume={19},
  pages={438-444}
}
Myoclonus–dystonia (M–D) is a neurological movement disorder with involuntary jerky and dystonic movements as major symptoms. About 50% of M–D patients have a mutation in ɛ-sarcoglycan (SGCE), a maternally imprinted gene that is widely expressed. As little is known about SGCE function, one can only speculate about the pathomechanisms of the exclusively neurological phenotype in M–D. We characterized different SGCE isoforms in the human brain using ultra-deep sequencing. We show that a major… CONTINUE READING
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