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A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment
Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced coenzyme Q to cytochrome C and thus, contributes t...
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| 出版年: | Front Neurol |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6737916/ https://ncbi.nlm.nih.gov/pubmed/31551910 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00944 |
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