Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene.
Ann Neurol
; 58(5): 792-7, 2005 Nov.
Article
em En
| MEDLINE
| ID: mdl-16240355
ABSTRACT
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."
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deleção de Genes
/
Distúrbios Distônicos
/
Sarcoglicanas
/
Mioclonia
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article