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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation
Three patients born to the same set of consanguineous parents presented with antenatal skin oedema, hypotonia, cardiomyopathy and tubulopathy. The enzymatic activities of multiple mitochondrial respiratory chain complexes were reduced in muscle. Marked reduction of 12s rRNA, the core of the mitochon...
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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: |
BMJ Group
2007
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2652816/ https://ncbi.nlm.nih.gov/pubmed/17873122 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.053116 |
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