Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Summary

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Authors: Ruth I. C. Glasgow, Kyle Thompson, Inês A. Barbosa, Langping He, Charlotte L. Alston, Charu Deshpande, Michael A. Simpson, Andrew A. M. Morris, Axel Neu, Ulrike Löbel, Julie Hall, Holger Prokisch, Tobias B. Haack, Maja Hempel, Robert McFarland, Robert W. Taylor

Journal title: neurogenetics

Journal number: 18/4

Journal publisher: Springer Verlag

Published year: 2017

Published pages: 227-235

DOI identifier: 10.1007/s10048-017-0526-4

ISSN: 1364-6745