載入...
POLG mutations presenting as CMT
We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset sensory axonal neuropathy caused by a homozygous c.2243G>C (p.Trp748Ser) mutation that resulted from uniparental disomy of the long arm of chro...
Na minha lista:
| 發表在: | J Peripher Nerv Syst |
|---|---|
| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2019
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8287532/ https://ncbi.nlm.nih.gov/pubmed/30843307 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jns.12313 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|