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Results 1 - 5 of 5 for Autosomal recessive spinocerebellar ataxia 17
  1. ... 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. ...
  2. ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. FA FRDA Friedreich spinocerebellar ataxia Friedrich's ataxia Genetic Testing Registry: Friedreich ataxia ...
  3. ... 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. ...
  4. ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy ... hypogonadism Spinocerebellar ataxia, hypogonadotropic hypogonadism, ...
  5. ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of ... ataxia type 17 Disease InfoSearch National Organization for Rare ...