HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.
Bianca de Aguiar Coelho Silva MadeiroKristien PeetersElker Lene Santos de LimaSilvia Amor-BarrisEls De VriendtAlbena JordanovaMaria Tereza Cartaxo MunizCarolina da Cunha CorreiaPublished in: Molecular genetics & genomic medicine (2021)
Our findings expand the geographic distribution of HINT1 neuropathy to South America, where we describe a recognized founder variant in a Brazilian adolescent with no apparent European ancestry. We confirm the association of the hallmark sign of neuromyotonia with the disease.