Journal
JOURNAL OF MEDICAL GENETICS
Volume 56, Issue 3, Pages 123-130Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jmedgenet-2018-105800
Keywords
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Categories
Funding
- Wellcome Centre for Mitochondrial Research [109915/Z/15/Z]
- Medical Research Council (UK) [203105/Z/16/Z]
- European Research Council [MR/N025431/1]
- Newton Fund (UK/Turkey) [309548, 201064/Z/16/Z]
- UK NIHR [MR/N027302/1, 101876/Z/13/Z]
- Medical Research Council Mitochondrial Biology Unit [MC_UP_1501/2]
- Medical Research Council (UK) Centre for Translational Muscle Disease
- EU FP7 TIRCON [G0601943]
- National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust
- University of Cambridge
- Great Ormond Street Hospital Children's Charity Research Leadership Award [V1260]
- NIHR Great Ormond Street Hospital Biomedical Research Centre
- Lily Foundation [739543]
- European Union
- Telethon [2017-2021']
- [GSP09004]
- [GSP16001]
- MRC [G1000848, MR/N010035/1, MR/N025431/1, MR/N025431/2] Funding Source: UKRI
Ask authors/readers for more resources
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 categorisation of ` diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.
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