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  • Stenshorne, Ida; Rasmussen, Magnhild; Salvanos, Panagiotis; Tallaksen, Chantal M E; Bindoff, Laurence A; Koht, Jeanette (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
    Background CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations ...