HINT1 neuropathy: Expanding the genotype and phenotype spectrum

Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cases of IPN associated with HINT1 pathogenic variations were described in 33 families sharing the same phenotype characterized by an axonal neuropathy w...

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Detalles Bibliográficos
Autores principales: Morel, Victor, Campana‐Salort, Emmanuelle, Boyer, Amandine, Esselin, Florence, Walther‐Louvier, Ulrike, Querin, Giorgia, Latour, Philippe, Lia, Anne‐Sophie, Magdelaine, Corinne, Beze‐Beyrie, Pierre, Behin, Anthony, Delague, Valérie, Levy, Nicolas, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805104/
https://www.ncbi.nlm.nih.gov/pubmed/35882622
http://dx.doi.org/10.1111/cge.14198

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805104/
https://www.ncbi.nlm.nih.gov/pubmed/35882622
http://dx.doi.org/10.1111/cge.14198

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