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: Müller, Birgitt, Hedrich, Katja, Kock, Norman, Dragasevic, Natasa, Svetel, Marina, Garrels, Jennifer, Landt, Olfert, Nitschke, Matthias, Pramstaller, Peter P., Reik, Wolf, Schwinger, Eberhard, Sperner, Jürgen, Ozelius, Laurie, Kostic, Vladimir, Klein, Christine
Format: Artigo
Idioma:Inglês
Publicat: The American Society of Human Genetics 2002
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC378568/
https://ncbi.nlm.nih.gov/pubmed/12444570
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