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A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency |
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| Authors: | Charlotte L Alston Camilla Ceccatelli Berti Emma L Blakely Monika Oláhová Langping He Colin J McMahon Simon E Olpin Iain P Hargreaves Cecilia Nolli Robert McFarland Paola Goffrini Maureen J O’Sullivan Robert W Taylor |
| Institution: | 1. Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK 2. Department of Life Sciences, University of Parma, Parma, Italy 3. Children’s Heart Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland 4. Department of Clinical Chemistry, Sheffield Children’s Hospital, Sheffield, UK 5. Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK 6. Department of Pathology, Our Lady’s Children’s Hospital, Crumlin, Dublin, Ireland |
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