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Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW()
We report a patient harboring a de novo m.5540G>A mutation affecting the MT-TW gene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with atonic–myoclonic epilepsy, bilateral sensorineural hearing loss, ataxia, motor regression, ptosis, and pigmentary retinopathy. Our...
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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: |
Elsevier
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4185924/ https://ncbi.nlm.nih.gov/pubmed/25302159 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2013.12.001 |
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