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Table 2 Clinical and molecular characteristics of patients with mitochondrial myopathy

From: Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy

Patient Sex Age of onset (yr) Diagnosis Clinical features [CK]rest (U L−1) [L]rest(mmol L−1) Genetic defect Mutant mtDNA Muscle biopsy
1 f 20 CPEO ptosis, external ophthalmoplegia, facial weakness, slight general weakness 219 normal mtDNA deletion 4977 bp > 95 % COX, ragged blue fibers
2 m 33 CPEO ptosis, external ophthalmoplegia, general weakness, exercise intolerance 401 normal mtDNA deletion 4405 bp 90 % unremarkable
3 f 62 MM mild proximal lower extremity weakness normal normal mtDNA deletion 5–13 kbp 49–71 % COX, ragged blue fibers
4 f 12 MM exercise induced myalgia 206 normal mtDNA deletion 10–13 kbp 35 % COX, SDH+, ragged red fibers
5 f 20 MM exercise induced myalgia normal normal mtDNA deletion 6–10 kbp 62 % ragged red fibers
6 f 39 MM exercise induced myalgia normal 5.3 mtDNA deletion 8–12 kbp 12–36 % unremarkable
  1. [CK], blood creatine kinase concentration at rest; COX cytochrome oxidase negative fibers, CPEO chronic progressive external ophthalmoplegia, [L], blood lactate concentration at rest; MM mitochondrial myopathy, mtDNA mitochondrial DNA, SDH + succinate dehydrogenase positive fibers