Article

Structural clustering and functional profiling of NMAN-causing variants in HINT1 suggest personalized therapeutic strategies

2023-12-02

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Biallelic loss-of-function variants in HINT1 cause neuromyotonia-associated axonal neuropathy (NMAN). Affected patients present from an early onset with a motor-greater-than-sensory polyneuropathy that is currently incurable. NMAN is a global cause of inherited peripheral neuropathy with higher prevalence in Europe and Asia. Nearly 30 distinct NMAN-associated variants have...

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Literature Corpus work: a31316b2-e55d-5290-8939-43a2254697b4
DOI: 10.1101/2023.12.01.569336

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