Table 1

Summary of the patient cohort with Mendelian mitochondrial disease (n=146)

Demographic data
No of patients146
Mean age (SD; 95% CI)53.6 years (18.8; 50.6–56.7)
Mean duration of follow-up (SD; 95% CI)7.9 years (5.1; 7.0–8.8)
Women (%)92 (63)
Clinical features associated with mitochondrial disease
Mean age of onset of mitochondrial disease (SD; 95% CI)29.0 years (19.8; 25.4–32.6)
Eyelid ptosis (%)79 (54.1)
Progressive external ophthalmoplegia (%)75 (51.4)
Cerebellar ataxia (%)50 (34.2)
Myopathy (%)48 (32.9)
Gastrointestinal disturbance (%)47 (32.2)
Peripheral neuropathy (%)33 (22.6)
Epileptic seizures (%)7 (4.8)
Mean creatine kinase (SD; 95% CI)216 units/L (218; 171-261)
Mean lactate (SD; 95% CI)2.2 mmol/L (2.7; 1.6–2.8)
Cardiovascular risk factors
Systolic blood pressure mm Hg (SD; 95% CI)134 (17.2; 130–138)
Diastolic blood pressure mm Hg (SD; 95% CI)78 (11.4; 76–81)
Hypertension (%)36 (4.7)
High cholesterol level >5 mmol/L (%)29 (19.9)
Positive smoking history (%)20 (13.7)
Body mass index kg/m2 (SD; 95% CI)26.5 (6.2; 25.1–27.9)
Obesity (BMI >30) (%)19 (13.0)
Diabetes (%)16 (11.0)
  • The cardiovascular risk factors (hypertension, high cholesterol, smoking history, obesity and diabetes) reported were the minimum frequencies of this cohort based on available information.

  • BMI, body mass index.