Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA

Mitochondrion - Tập 36 - Trang 15-20 - 2017
Claudia B. Catarino1, Uwe Ahting2, Mirjana Gusic2,3, Arcangela Iuso2,3, Birgit Repp2,3, Katrin Peters4, Saskia Biskup4, Bettina von Livonius5, Holger Prokisch2,3, Thomas Klopstock1,6,7
1Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians-Universität München, Munich, Germany
2Institute of Human Genetics, Technische Universität München, Munich, Germany
3Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
4CeGaT GmbH, Tübingen, Germany
5Department of Ophthalmology, Ludwig-Maximilians-Universität München, Munich, Germany
6DZNE–German Center for Neurodegenerative Diseases, Munich, Germany
7Munich Cluster for Systems Neurology (SyNergy), Munich, Germany

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Mitochondrion

Tập 36

15-20

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