Mitochondrial complex IV deficiency caused by a novel...

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European Journal of Human Genetics 2018 / 10

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile

Roos, Sara, Sofou, Kalliopi, Hedberg-Oldfors, Carola, Kollberg, Gittan, Lindgren, Ulrika, Thomsen, Christer, Tulinius, Mar, Oldfors, Anders
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Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-018-0286-0
Date:
October, 2018
File:
PDF, 2.47 MB
english, 2018
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