Article
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.
Molecular biology reports - 1 Feb 2020
Shchagina O A, Milovidova T B, Murtazina A F, Rudenskaya G E, Nikitin S S, Dadali E L, Polyakov A V
Abstract excerpt
Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed, while axonopathy is the major clinical finding. The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro) pathogenic variant in homozygous or compound heterozygous state. In this study, we...
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