Llwytho...
Axonal neuropathy with neuromyotonia: there is a HINT
Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant Charcot–Marie–Tooth neuropathy. About 80% of the patients exhibit neuromyotonia, a striking clinical and electrophysiological hallmark that can help to d...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Brain |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Oxford University Press
2017
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5382946/ https://ncbi.nlm.nih.gov/pubmed/28007994 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww301 |
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