Padiath, Quasar Saleem ; Srivastava, Achal Kumar ; Roy, Sanghmitra ; Jain, Satish ; Brahmachari, Samir Kumar (2005) Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 133B (1). pp. 124-126. ISSN 0148-7299
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Official URL: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.b....
Related URL: http://dx.doi.org/10.1002/ajmg.b.30088
Abstract
We report a three generation Indian pedigree with the proband having 45 repeats at the Machado Joseph Disease (MJD)/spinocerebellar ataxia 3 (SCA3) disease locus. The proband exhibited clinical features of SCA and showed signs of cerebellar and brainstem atrophy on the MRI scan. The 45 repeat allele was unstable upon inter-generational transmission and was associated with a haplotype found in the majority of MJD/SCA3 patients from around the world. This is the smallest unstable allele reported till date at the MJD/SCA3 locus and may greatly reduce the gap between normal and pathological repeat ranges.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to John Wiley and Sons, Inc. |
| Keywords: | Machado Joseph Disease; Spinocerebellar Ataxia 3; CAG Repeat; Repeat Instability; Haplotype; Intermediate Allele |
| ID Code: | 6368 |
| Deposited On: | 20 Oct 2010 11:02 |
| Last Modified: | 27 Jan 2011 07:08 |
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