HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report

BACKGROUND: Recessive loss‐of‐function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty‐four distinct pathogenic variants are reported all over the world, including four confirmed founder variations in Europe and Asia. The majority of...

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Detalles Bibliográficos
Autores principales: de Aguiar Coelho Silva Madeiro, Bianca, Peeters, Kristien, Santos de Lima, Elker Lene, Amor‐Barris, Silvia, De Vriendt, Els, Jordanova, Albena, Cartaxo Muniz, Maria Tereza, da Cunha Correia, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580089/
https://www.ncbi.nlm.nih.gov/pubmed/34562060
http://dx.doi.org/10.1002/mgg3.1783

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