Journal article
Diagnosis of possible' mitochondrial disease: An existential crisis
S Parikh, A Karaa, A Goldstein, ES Bertini, PF Chinnery, J Christodoulou, BH Cohen, RL Davis, MJ Falk, C Fratter, R Horvath, MK Koenig, M Mancuso, S McCormack, EM McCormick, R McFarland, V Nesbitt, M Schiff, H Steele, S Stockler Show all
Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2019
Abstract
Primary genetic mitochondrial diseases are often difficult to diagnose, and the term possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisatio..
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Funding Acknowledgements
RH is a Wellcome Trust Investigator (109915/Z/15/Z), who receives support from the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), Medical Research Council (UK) (MR/N025431/1), the European Research Council (309548), the Wellcome Trust Pathfinder Scheme (201064/Z/16/Z) and the Newton Fund (UK/Turkey, MR/N027302/1). PFC is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z) and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2), the Medical Research Council (UK) Centre for Translational Muscle Disease (G0601943), EU FP7 TIRCON and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge. SR is supported by a Great Ormond Street Hospital Children's Charity Research Leadership Award (V1260) and by research grant funding from the NIHR Great Ormond Street Hospital Biomedical Research Centre and the Lily Foundation. ESB, SR and MR are members of the European Reference Network for Rare Hereditary Metabolic Disorders (METABERN)-Project ID No 739543. MetabERN is partly cofunded by the European Union in the framework of the Third Health Programme ' ERN-2016Framework Partnership Agreement 2017-2021'. MM is supported by research grants from Telethon and MITOCON Italian patients' association (grants GSP09004 and GSP16001).