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...

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Detalles Bibliográficos
Autores principales: Løseth, Sissel, Høyer, Helle, Le, Kim-Mai, Delpire, Eric, Kinge, Einar, Lande, Asgeir, Hilmarsen, Hilde Tveitan, Fagerheim, Toril, Nilssen, Øivind, Braathen, Geir Julius
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
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

Internet

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

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