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De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities
OBJECTIVE: To determine the genetic etiology of a young woman presenting an early-onset, progressive neurodegenerative disorder with evidence of decreased mitochondrial complex I and IV activities in skeletal muscle suggestive of a mitochondrial disorder. METHODS: A case report including diagnostic...
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| 出版年: | Neurol Genet |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5610040/ https://ncbi.nlm.nih.gov/pubmed/28955726 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000187 |
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