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Titel:

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

Dokumenttyp:
Journal Article; Article
Autor(en):
Grabowski, M; Zimprich, A; Lorenz-Depiereux, B; Kalscheuer, V; Asmus, F; Gasser, T; Meitinger, T; Strom, TM
Abstract:
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 evidence for a maternal imprinting mechanism. As differential methylated regions (DMRs) are a characteristic feature of imprinted genes, we studied the methylation pattern of CpG dinucleotides within the C...     »
Zeitschriftentitel:
Eur J Hum Genet
Jahr:
2003
Band / Volume:
11
Heft / Issue:
2
Seitenangaben Beitrag:
138-44
Sprache:
eng
Volltext / DOI:
doi:10.1038/sj.ejhg.5200938
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/12634861
Print-ISSN:
1018-4813
TUM Einrichtung:
Institut für Humangenetik
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