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Results 1 - 4 of 4 for Autosomal recessive spinocerebellar ataxia 16
  1. ... 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 ... Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [updated 2024 Feb 29]. In: Adam MP, Feldman ...
  2. ... show signs and symptoms of the condition. ARCA1 Autosomal recessive spinocerebellar ataxia 8 Recessive ataxia of Beauce Genetic Testing Registry: ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPINOCEREBELLAR ATAXIA, ... SCAR8 PubMed Beaudin M, Gamache PL, Gros- ...
  3. Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder ...
  4. ... 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 ...