Article
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 : the official publication of the International Society of Psychiatric Genetics - 5 Feb 2005
Padiath Quasar Saleem, Srivastava Achal Kumar, Roy Sanghmitra, Jain Satish, Brahmachari Samir Kumar
Abstract excerpt
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...
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