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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2002-9-26
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pubmed:abstractText |
Mutations in the gene for epsilon-sarcoglycan (SGCE) have been found to cause myoclonus-dystonia syndrome. We now report clinical and genetic findings in nine additional European families with myoclonus-dystonia syndrome. The clinical presentation in 24 affecteds was homogeneous with myoclonus predominantly of neck and upper limbs in 23 of them and dystonia, presenting as cervical dystonia and/or writer's cramp, in 13 cases. Six novel and one previously known heterozygous SGCE mutations were identified. SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.
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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 |
Oct
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pubmed:issn |
0364-5134
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pubmed:author |
pubmed-author:AsmusFriedrichF,
pubmed-author:BhatiaKailash PKP,
pubmed-author:BriceAlexisA,
pubmed-author:CastroMirnaM,
pubmed-author:DürrAlexandraA,
pubmed-author:DeuschlGüntherG,
pubmed-author:GasserThomasT,
pubmed-author:KühnAndrea AAA,
pubmed-author:KabusChristianC,
pubmed-author:KupschAndreasA,
pubmed-author:StromTim MTM,
pubmed-author:Tezenas Du MontcelSophieS,
pubmed-author:VidailhetMarieM,
pubmed-author:WoodNicholas WNW,
pubmed-author:ZiemannUlfU,
pubmed-author:ZimprichAlexanderA
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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 |
489-92
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12325078-Adolescent,
pubmed-meshheading:12325078-Adult,
pubmed-meshheading:12325078-Child,
pubmed-meshheading:12325078-Child, Preschool,
pubmed-meshheading:12325078-Cytoskeletal Proteins,
pubmed-meshheading:12325078-DNA Mutational Analysis,
pubmed-meshheading:12325078-Dystonic Disorders,
pubmed-meshheading:12325078-Female,
pubmed-meshheading:12325078-Genomic Imprinting,
pubmed-meshheading:12325078-Genotype,
pubmed-meshheading:12325078-Humans,
pubmed-meshheading:12325078-Infant,
pubmed-meshheading:12325078-Male,
pubmed-meshheading:12325078-Membrane Glycoproteins,
pubmed-meshheading:12325078-Mutation,
pubmed-meshheading:12325078-Myoclonus,
pubmed-meshheading:12325078-Penetrance,
pubmed-meshheading:12325078-Phenotype,
pubmed-meshheading:12325078-Sarcoglycans,
pubmed-meshheading:12325078-Sex Factors
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pubmed:year |
2002
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pubmed:articleTitle |
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.
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pubmed:affiliation |
Neurologische Klinik Grosshadern, Ludwig-Maximilians-Universität, Munich, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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