Journal article

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Charlotte L Alston, Caoimhe Howard, Monika Olahova, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian PH Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew AM Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell Show all

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2016

Grants

Awarded by Wellcome Trust Centre for Mitochondrial Research


Awarded by Medical Research Council (UK) Centre for Translational Muscle Disease Research


Awarded by German Bundesministerium fur Bildung und Forschung (BMBF) through the German Network for mitochondrial disorders (mitoNET)


Awarded by E-Rare project GENOMIT


Awarded by National Institute for Health Research (NIHR) doctoral fellowship


Awarded by Medical Research Council


Awarded by National Institute for Health Research


Funding Acknowledgements

This work was supported by grants (to RWT and RM) from The Wellcome Trust Centre for Mitochondrial Research (096919Z/11/Z), the Medical Research Council (UK) Centre for Translational Muscle Disease Research (G0601943), The Lily Foundation and the UK NHS Highly Specialised Commissioners which funds the "Rare Mitochondrial Disorders of Adults and Children" Diagnostic Service in Newcastle upon Tyne (http://www.newcastle-mitochondria.com). HP was supported by the German Bundesministerium fur Bildung und Forschung (BMBF) through the German Network for mitochondrial disorders (mitoNET, 01GM1113C) and the E-Rare project GENOMIT (01GM1207). This work was supported by an Early Career Grant from the Society for Endocrinology to PGM. CLA is the recipient of a National Institute for Health Research (NIHR) doctoral fellowship (NIHRHCS-D12-03-04).