Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
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...
Paper Details
Title
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Published Date
Jan 25, 2019
Journal
Volume
56
Issue
3
Pages
123 - 130
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