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

Abstract 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 maj...

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Autores principales: Bianca deAguiar Coelho Silva Madeiro, Kristien Peeters, Elker Lene Santos de Lima, Silvia Amor‐Barris, Els De Vriendt, Albena Jordanova, Maria Tereza Cartaxo Muniz, Carolina da Cunha Correia
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
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Acceso en línea:https://doaj.org/article/8751b0dbad844852a1befa242ef5bb1e
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