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Results 1 - 1 of 1 for Spinocerebellar "ataxia," autosomal recessive 31
  1. TWNK gene 
    ... Spelbrink JN, Lonnqvist T, Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005 Oct 15;14(20):2981-90. doi: 10.1093/hmg/ddi328. Epub 2005 Aug 31. Citation on PubMed Spelbrink JN, Li FY, Tiranti ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics