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SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?
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...
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| Main Authors: | , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3060322/ https://ncbi.nlm.nih.gov/pubmed/21157498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.206 |
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