Article
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
American journal of human genetics - 1 Dec 2002
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
Abstract excerpt
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 epsilon-sarcoglycan gene (SGCE). The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmission, suggesting a putative maternal imprinting mechanism. We present an apparently sporadic M-D...
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