Inherited and de novo mutations in sporadic cases of DYT1-dystonia
نویسندگان
چکیده
منابع مشابه
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
The DYT1 gene recently has been cloned and shown to contain a three nucleotide (GAG) deletion responsible for most cases of autosomal dominant early-onset torsion dystonia. This deletion results in the loss of one of a pair of glutamic acids in a conserved region of a novel ATP-binding protein (torsinA). Previous haplotype analysis revealed that this same deletion had arisen at least two differ...
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early-onset, generalized primary torsion dystonia (ptd) is an autosomal dominant disorder, characterized by involuntary movements and abnormal postures. the majority of cases are caused by a 3-bp deletion (gag deletion at position 946) in the dyt1 gene on chromosome 9q34 that allows for specific genetic testing. forty eight patients with early onset primary torsion dystonia were screened for th...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2002
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200782