Blar i Faculty of Medicine på emneord "Autosomal recessive"
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Friedreich ataxia in Norway - An epidemiological, molecular and clinical study Rare neurological diseases
(Peer reviewed; Journal article, 2015-09-04)Background: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and ...