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Analysis of mitochondrial DNA in several generations of the same family: implications for the differential diagnosis of mitochondrial disease

Mitochondrial insufficiency does not always have vivid polysystemic manifestations that clinically reflect the dysfunction of these organelles. Diagnosis can be difficult both from a clinical and laboratory point of view. In this case, the authors describe a family with erased or not obvious corresp...

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Main Authors: N. A. Litvinova, V. S. Sukhorukov, N. S. Ardashirova, D. R. Akhmadullina, T. I. Baranich
格式: Artigo
語言:Russo
出版: Ltd. “The National Academy of Pediatric Science and Innovation” 2022-04-01
叢編:Rossijskij Vestnik Perinatologii i Pediatrii
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在線閱讀:https://www.ped-perinatology.ru/jour/article/view/1587
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