• Late onset sensory-motor axonal neuropathy, a novel SLC12A6 related phenotype 

      Løseth, Sissel; Høyer, Helle; Delpire, Eric; Kinge, Einar; Lande, Asgeir; Hilmarsen, Hilde Tveitan; Fagerheim, Toril; Nilssen, Øivind; Braathen, Geir Julius; Le, Kim-Mai (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-12-21)
      We describe five families from different regions in Norway with a late onset autosomal dominant hereditary polyneuropathy sharing a heterozygous variant in the SLC12A6 gene. Mutations in the same gene have previously been described in infants with autosomal recessive hereditary motor and sensory neuropathy with corpus callosum agenesis and mental retardation (Andermann syndrome), and in a few ...