eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | axonal neuropathy |
| Comorbidity | C0242287|neuromyotonia |
| Sentences | 3 |
| PubMedID- 24105373 | However, in 2/12 patients a recessive mutation in histidine triad nucleotide binding protein 1 (hint1, recently discovered as a cause of axonal neuropathy with neuromyotonia) was identified. |
| PubMedID- 24131582 | Background: autosomal recessive axonal neuropathy with neuromyotonia is a recently described entity associated to the hint1 gene, encoding histidine triad nucleotide-binding protein 1. |
| PubMedID- 24705285 | A similar approach, combining whole-genome snp genotyping, homozygosity mapping and ngs, allowed the identification of mutations in hint1 causing an autosomal recessive axonal neuropathy with neuromyotonia [85]. |
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