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Diagnosis of 'possible' mitochondrial disease: an existential crisis

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.

Publication metadata

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


DOI: 10.1136/jmedgenet-2018-105800


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