DESCRIBE <http://purl.uniprot.org/citations/22026499>

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http://purl.uniprot.org/citations/22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22026499	http://www.w3.org/2000/01/rdf-schema#comment	" Background Myoclonus dystonia is an autosomal dominant dystonia-plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients report myoclonus reduction after alcohol intake. In several families, mutations in the SGCE gene have been identified. Method We report of a three-generation family with myoclonus dystonia displaying a varied phenotype and maternal imprinting. Additionally, this family displays some unusual clinical presentations including alcohol-induced dystonia in an adult man, which will be discussed. Results A novel mutation c.386T>C [p.I129T] was found within exon 3 of the SGCE gene in all three affected family members. In addition, two additional mutations [c.305G>A and IVS3+15G>A], judged to be polymorphisms in the SGCE gene, were found in two affected and one healthy family member. Conclusions This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia."xsd:string
http://purl.uniprot.org/citations/22026499	http://purl.org/dc/terms/identifier	"doi:10.1111/j.1651-2227.2011.02502.x"xsd:string
http://purl.uniprot.org/citations/22026499	http://purl.uniprot.org/core/author	"Rolfs A."xsd:string
http://purl.uniprot.org/citations/22026499	http://purl.uniprot.org/core/author	"Norling A."xsd:string
http://purl.uniprot.org/citations/22026499	http://purl.uniprot.org/core/author	"Tedroff K."xsd:string
http://purl.uniprot.org/citations/22026499	http://purl.uniprot.org/core/date	"2012"xsd:gYear
http://purl.uniprot.org/citations/22026499	http://purl.uniprot.org/core/name	"Acta Paediatr"xsd:string
http://purl.uniprot.org/citations/22026499	http://purl.uniprot.org/core/pages	"e90-2"xsd:string
http://purl.uniprot.org/citations/22026499	http://purl.uniprot.org/core/title	"A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype."xsd:string
http://purl.uniprot.org/citations/22026499	http://purl.uniprot.org/core/volume	"101"xsd:string
http://purl.uniprot.org/citations/22026499	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/22026499
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http://purl.uniprot.org/uniprot/#_A0A2R8YGQ3-mappedCitation-22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/#_E9PEH6-mappedCitation-22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/#_A0A0S2Z4P5-mappedCitation-22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/#_A0A2R8Y5J3-mappedCitation-22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/#_B7Z2R4-mappedCitation-22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/#_B4DP78-mappedCitation-22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/#_C9JR67-mappedCitation-22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/#_O43556-mappedCitation-22026499	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/B7Z2R4	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/A0A0S2Z4P5	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/O43556	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/22026499
http://purl.uniprot.org/uniprot/A0A2R8Y5J3	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/22026499