Small Complex Rearrangement in HINT1-Related Axonal Neuropathy
Small Complex Rearrangement in HINT1-Related Axonal Neuropathy
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Background: Autosomal recessive inherited pathogenetic variants in the histidine triad nucleotide-binding protein 1 (HINT1) gene are responsible for an axonal Charcot-Marie-Tooth neuropathy associated with neuromyotonia, a phenomenon resulting from peripheral nerve hyperexcitability that causes a spontaneous muscle activity such as persistent muscl...
Alternative Titles
Full title
Small Complex Rearrangement in HINT1-Related Axonal Neuropathy
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11593638
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11593638
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes15111483
