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J Neurol Neurosurg Psychiatry 63:16-22 doi:10.1136/jnnp.63.1.16
  • Paper

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

Table 2

Complex V activity

Patients Muscle Fibroblasts Heart Brain
Ped A IV/2 65 35 14 5.2
Ped B III/1 121 67
Ped C III/1 67 69
Ped C II/1 63
Ped D III/1 110 54
Ped E II/1 90
Normal values 154 (21) 106 (25) 57 (20) 18.4 (3.6)
  • Values are means (SDs) expressed as nmol/min/mg of protein as a ratio with citrate synthase X 100.

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