Axonal neuropathy with neuromyotonia: there is a HINT

Mutations in HINT1 cause a common, autosomal-recessive, axonal Charcot-Marie-Tooth neuropathy, often with neuromyotonia. Peeters et al. summarize neurological aspects of the disease, epidemiology and mutation spectrum, and structural and functional characteristics of the affected protein. They propose guidelines to recognize and differentiate HINT1-neuropathy and suggest strategies to treat common symptoms.

• Publication year

  2016

• Venue

  Brain : a journal of neurology

• Publication date

  2016-12-21

• Fields of study

  Medicine

• Identifiers
  DOI 10.1093/brain/aww301PMID 28007994PMCID 5382946
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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