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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2002-10-28
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pubmed:abstractText |
Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0364-5134
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pubmed:author |
pubmed-author:BreakefieldXandra OXO,
pubmed-author:BressmanSusan BSB,
pubmed-author:BrinMitchell FMF,
pubmed-author:DanisiFabioF,
pubmed-author:DohenyDanaD,
pubmed-author:KleinChristineC,
pubmed-author:KockNormanN,
pubmed-author:KramerPatricia LPL,
pubmed-author:LeungJoanneJ,
pubmed-author:MüllerBirgittB,
pubmed-author:MorrisonChrisC,
pubmed-author:OzeliusLaurie JLJ,
pubmed-author:SchwingerEberhardE,
pubmed-author:SilvermanJeremyJ,
pubmed-author:SmithChristopherC,
pubmed-author:VelickovicMiodragM,
pubmed-author:WalkerRuth HRH,
pubmed-author:XXX,
pubmed-author:de Carvalho AguiarPatriciaP,
pubmed-author:de LeonDeborahD
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pubmed:issnType |
Print
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
675-9
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:12402271-Base Sequence,
pubmed-meshheading:12402271-Carrier Proteins,
pubmed-meshheading:12402271-Cytoskeletal Proteins,
pubmed-meshheading:12402271-DNA Mutational Analysis,
pubmed-meshheading:12402271-Dystonia,
pubmed-meshheading:12402271-Humans,
pubmed-meshheading:12402271-Membrane Glycoproteins,
pubmed-meshheading:12402271-Molecular Chaperones,
pubmed-meshheading:12402271-Molecular Sequence Data,
pubmed-meshheading:12402271-Mutation,
pubmed-meshheading:12402271-Pedigree,
pubmed-meshheading:12402271-Receptors, Dopamine D2,
pubmed-meshheading:12402271-Sarcoglycans
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pubmed:year |
2002
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pubmed:articleTitle |
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
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pubmed:affiliation |
Department of Neurology, Medical University of Lübeck, Lübeck, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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