Article
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.
Molecular genetics & genomic medicine - 1 Oct 2021
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
Abstract excerpt
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 patients carry the ancient Slavic founder variant c.110G>C (p.Arg37Pro) that shows a distribution gradient from...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.