Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Abstract

BACKGROUND Mitochondrial diseases due to deficiencies in the mitochondrial oxidative phosphorylation system (OXPHOS) can be associated with nuclear genes involved in mitochondrial translation, causing heterogeneous early onset and often fatal phenotypes. CASE REPORT The authors describe the clinical features and diagnostic workup of an infant who… (More)
DOI: 10.3389/fgene.2015.00102

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@inproceedings{Brito2015LongtermSI, title={Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations}, author={S. V. Brito and Kyle M A Thompson and J Maria Campistol and Jaime Colomer and Steven A. Hardy and Langping He and Ana Fern{\'a}ndez-Marmiesse and Lourdes Palacios and Cristina Jou and Cecilia Jim{\'e}nez-Mallebrera and J. Scott Armstrong and R. Montero and Rafael Artuch and Christin Tischner and Tina Wenz and Robert Z. McFarland and Robert W. Taylor}, booktitle={Front. Genet.}, year={2015} }