HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling

BACKGROUND: Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN; OMIM[#137200]). With 25 causal variants identified worldwide, HINT1 mutations are among the most common causes of recessive neuropathy. The m...

Descripción completa

Detalles Bibliográficos
Autores principales: Malcorps, Matilde, Amor-Barris, Silvia, Burnyte, Birute, Vilimiene, Ramune, Armirola-Ricaurte, Camila, Grigalioniene, Kristina, Ekshteyn, Alexandra, Morkuniene, Ausra, Vaitkevicius, Arunas, De Vriendt, Els, Baets, Jonathan, Scherer, Steven S., Ambrozaityte, Laima, Utkus, Algirdas, Jordanova, Albena, Peeters, Kristien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569031/
https://www.ncbi.nlm.nih.gov/pubmed/36242072
http://dx.doi.org/10.1186/s13023-022-02541-0

Ejemplares similares

Ejemplares similares