Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

@article{Honzk2010MitochondrialEW,
  title={Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.},
  author={Tom{\'a}{\vs} Honz{\'i}k and Mark{\'e}ta Tesařov{\'a} and Johannes A Mayr and Hana Hans{\'i}kov{\'a} and Pavel Je{\vs}ina and Olaf A F Bodamer and Johannes Koch and Martin Magner and Peter Freisinger and Martina Huemer and Olga Kostkov{\'a} and Rudy Noel Van Coster and Stanislav Kmoch and Josef Hou{\vs}těk and Wolfgang Sperl and Jiř{\'i} Zeman},
  journal={Archives of disease in childhood},
  year={2010},
  volume={95 4},
  pages={296-301}
}
OBJECTIVE Mitochondrial disturbances of energygenerating systems in childhood are a heterogeneous group of disorders. The aim of this multi-site survey was to characterise the natural course of a novel mitochondrial disease with ATP synthase deficiency and mutation in the TMEM70 gene. METHODS Retrospective clinical data and metabolic profiles were collected and evaluated in 25 patients (14 boys, 11 girls) from seven European countries with a c.317-2A-->G mutation in the TMEM70 gene. RESULTS… CONTINUE READING

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