Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
About this item
Full title
Author / Creator
Parikh, Sumit , Karaa, Amel , Goldstein, Amy , Bertini, Enrico Silvio , Chinnery, Patrick F , Christodoulou, John , Cohen, Bruce H , Davis, Ryan L , Falk, Marni J , Fratter, Carl , Horvath, Rita , Koenig, Mary Kay , Mancuso, Michaelangelo , McCormack, Shana , McCormick, Elizabeth M , McFarland, Robert , Nesbitt, Victoria , Schiff, Manuel , Steele, Hannah , Stockler, Silvia , Sue, Carolyn , Tarnopolsky, Mark , Thorburn, David R , Vockley, Jerry and Rahman, Shamima
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group LTD
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Authors, Artists and Contributors
Author / Creator
Karaa, Amel
Goldstein, Amy
Bertini, Enrico Silvio
Chinnery, Patrick F
Christodoulou, John
Cohen, Bruce H
Davis, Ryan L
Falk, Marni J
Fratter, Carl
Horvath, Rita
Koenig, Mary Kay
Mancuso, Michaelangelo
McCormack, Shana
McCormick, Elizabeth M
McFarland, Robert
Nesbitt, Victoria
Schiff, Manuel
Steele, Hannah
Stockler, Silvia
Sue, Carolyn
Tarnopolsky, Mark
Thorburn, David R
Vockley, Jerry
Rahman, Shamima
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2179430504
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2179430504
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2018-105800
