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

Abstract excerpt

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 case reports...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Agenesis of Corpus Callosum
• Share to Hereditary Sensory and Motor Neuropathy