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The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

✍ Scribed by Grabowski, Monika; Zimprich, Alexander; Lorenz-Depiereux, Bettina; Kalscheuer, Vera; Asmus, Friedrich; Gasser, Thomas; Meitinger, Thomas; Strom, Tim M


Book ID
110025355
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
441 KB
Volume
11
Category
Article
ISSN
1018-4813

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The epsilon-sarcoglycan gene (SGCE), mut
✍ Grabowski, Monika; Zimprich, Alexander; Lorenz-Depiereux, Bettina; Kalscheuer, V πŸ“‚ Article πŸ“… 2003 πŸ› Nature Publishing Group 🌐 English βš– 441 KB

Myoclonus-dystonia syndrome (MDS) is a non-degenerative neurological disorder that has been described to be inherited in an autosomal dominant mode with incomplete penetrance. MDS is caused by loss of function mutations in the epsilon-sarcoglycan gene. Reinvestigation of MDS pedigrees provided evide