Article
Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.
Biochimica et biophysica acta - 6 Dec 2004
Thorburn David R, Sugiana Canny, Salemi Renato, Kirby Denise M, Worgan Lisa, Ohtake Akira, Ryan Michael T
Abstract excerpt
Biochemical diagnosis of mitochondrial respiratory chain disorders requires caution to avoid misdiagnosis of secondary enzyme defects, and can be improved by the use of conservative diagnostic criteria. Pathogenic mutations causing mitochondrial disorders have now been identified in more than 30 mitochondrial DNA (mtDNA) genes encoding respiratory chain subunits, ribosomal- and t-RNAs. mtDNA mutations appear to...
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