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Lookup NU author(s): Professor Patrick Chinnery, Professor Rita HorvathORCiD, Professor Bobby McFarlandORCiD, Dr Victoria Nesbitt, Dr Hannah Steele
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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. Primary genetic mitochondrial diseases are often difficult to diagnose, and the term â € 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 â € 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 â € diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.
Author(s): Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, Mccormack S, Mccormick EM, Mcfarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S
Publication type: Article
Publication status: Published
Journal: Journal of Medical Genetics
Year: 2019
Volume: 56
Issue: 3
Pages: 123-130
Print publication date: 01/03/2019
Online publication date: 25/01/2019
Acceptance date: 23/12/2018
ISSN (print): 0022-2593
ISSN (electronic): 1468-6244
Publisher: BMJ Group
URL: https://doi.org/10.1136/jmedgenet-2018-105800
DOI: 10.1136/jmedgenet-2018-105800
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