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KMID : 0918520150150010025
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Journal of the Korean Society of Inherited Metabolic Disease
2015 Volume.15 No. 1 p.25 ~ p.28
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Neonatal Mitochondrial Respiratory Chain Defect and Vaginal Embryonal Rhabdomyosarcoma: Possibility of Oncogenesis?
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Cho Min-Su
Hur Jin-Ho
Park Dae-Young
Cho Si-Hyun
Kim Se-Hoon
Lee Young-Mock
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Abstract
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Mitochondrial disorders are rare metabolic diseases. They often present during neonatal period but with nonspecific clinical features such as feeding difficulties, failure to thrive, and seizures. Mitochondrial defects have also known to be associated with neurological disorders, as well as cancers. We report the first case of neonatal mitochondrial respiratory chain defect with sarcoma botryoides confirmed by pathologic diagnosis, suggesting another possible link between mitochondrial dysfunction and cancer.
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KEYWORD
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Mitochondria, Respiratory chain defect, Neonate, Embryonal rhabdomyosarcoma, Oncogenesis
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