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Table 1 Clinical and laboratory data in MD patients

From: Peripheral Benzodiazepine Binding Sites in Platelets of Patients Affected by Mitochondrial Diseases and Large Scale Mitochondrial DNA Rearrangements

Case Age/sex Diagnosis mtDNA Mutations Biochemical COX Activity*
1 60/F ME Multiple deletions n.e.
2 74/M CPEO Single deletion 640
3 74/F CPEO Single deletion 332
4 69/F MM Multiple deletions 214
5 43/F CPEO Multiple deletions n.e.
6 59/F CPEO Multiple deletions 520
7 51/F CPEO Single deletion 496
8 64/F CPEO Single deletion 474
9 52/M CPEO Single deletion 378
10 27/M CPEO Single deletion 284
11 33/F MM Single deletion 535
  1. Abbreviations: CPEO, chronic progressive external ophthalmoplegia; ME, mitochondrial encephalomyopathy; MM, mitochondrial myopathy; n.e., not evaluated.
  2. *Nanomoles of substrate utilized min−1 mg−1 of noncollagen proteins in isolated muscle mitochondria. Control values (12 subjects): 906 ± 203 (mean ± SD).