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Friedreich Ataxia: Neuropathology Revised
Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome–encoded mitochondrial protein. Low frataxin levels lead...
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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3817014/ https://ncbi.nlm.nih.gov/pubmed/23334592 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e31827e5762 |
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