Article
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Molecular genetics and metabolism - 1 Jan 2000
Kerr Marina, Hume Stacey, Omar Fadya, Koo Desmond, Barnes Heather, Khan Maida, Aman Suhaib, Wei Xing-Chang, Alfuhaid Hanen, McDonald Roman, McDonald Liam, Newell Christopher, Sparkes Rebecca, Hittel Dustin, Khan Aneal
Abstract excerpt
Mitochondrial diseases, due to nuclear or mitochondrial genome mutations causing mitochondrial dysfunction, have a wide range of clinical features involving neurologic, muscular, cardiac, hepatic, visual, and auditory symptoms. Making a diagnosis of a mitochondrial disease is often challenging since there is no gold standard and traditional testing methods have required tissue biopsy which presents technical...
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