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Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia
Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the ε-sarcoglycan gene (SGCE). The mode of inheritance is autosomal dominant with reduced penetrance upon mate...
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| Autors principals: | , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
The American Society of Human Genetics
2002
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC378568/ https://ncbi.nlm.nih.gov/pubmed/12444570 |
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