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Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
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 neu...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976957/ https://www.ncbi.nlm.nih.gov/pubmed/36542484 http://dx.doi.org/10.1093/brain/awac488 |