Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
| Autor: | Lena E. Hjermind, Andreas Kupsch, Andrea A. Kühn, Thomas Gasser, Erik Dupont, Marita Munz, Farid Salih, Friedrich Asmus, Karen Østergaard |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Male Myoclonus Adolescent DNA Mutational Analysis Nonsense mutation Gene Dosage Biology medicine.disease_cause Gene dosage Exon SGCE Sarcoglycans medicine Humans RNA Messenger Family Health Genetics Mutation Reverse Transcriptase Polymerase Chain Reaction Genetic heterogeneity Exons Stop codon Pedigree genomic DNA Neurology Dystonic Disorders Female Neurology (clinical) Gene Deletion |
| Zdroj: | Annals of Neurology. 58:792-797 |
| ISSN: | 1531-8249 0364-5134 |
| Popis: | Direct genomic DNA sequencing fails to detect epsilon-sarcoglycan (SGCE) mutations in up to 30% of familial myoclonus-dystonia (M-D) cases. We identified novel large heterozygous deletions of SGCE exon 5 or exon 6 in two M-D pedigrees. Like nonsense mutations, exon rearrangements result in the generation of premature stop codons downstream of the deleted exon. SGCE exon dosage assays may identify additional families with SGCE mutation and thus reduce "genetic heterogeneity." |
| Databáze: | OpenAIRE |
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