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Results 1 - 1 of 1 for Autosomal recessive spinocerebellar ataxia 20
  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 ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics