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Spinocerebellar ataxia type 35
- Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid- ...
- ... s mother (maternal inheritance).Individuals who have around 35 CAG repeats in the ATXN1 gene do not develop SCA1, ... Spinocerebellar ataxia type 1 Spinocerebellar ...
- ... repeated hexanucleotide is unclear. NOP56 gene mutations cause spinocerebellar ataxia type 36 (SCA36), which is a condition characterized by ... of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan). Eur J Neurol. 2014 Nov;21( ...
- ... Testing Registry: Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 PubMed Finsterer J. Ataxias with autosomal, X- ...
- ... Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet. 2008 Dec 1;17(23):3822-35. doi: 10.1093/hmg/ddn280. Epub 2008 Sep ...