HINT1 neuropathy in Norway: clinical, genetic and functional profiling

BACKGROUND: Autosomal recessive axonal neuropathy with neuromyotonia has been linked to loss of functional HINT1. The disease is particularly prevalent in Central and South-East Europe, Turkey and Russia due to the high carrier frequency of the c.110G > C (p.Arg37Pro) founder variant. RESULTS: In...

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Publicado en:Orphanet J Rare Dis
Autores principales: Amor-Barris, Silvia, Høyer, Helle, Brauteset, Lin V., De Vriendt, Els, Strand, Linda, Jordanova, Albena, Braathen, Geir J., Peeters, Kristien
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7934415/
https://ncbi.nlm.nih.gov/pubmed/33663550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01746-z
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