Table 1 Clinical and laboratory characteristics of patients
From: Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity
Clinical phenotype | Percentage (%) |
|---|---|
Developmental delay | 53 |
Abnormal RCC enzymes activity | 21 |
Abnormal muscle biopsy | 15 |
Hypotonia | 30 |
Seizures | 28 |
Gastrointestinal dysmotility | 26 |
Fatigue/exercise intolerance | 17 |
Neuropathy | 8 |
Ataxia | 7 |
Dystonia | 4 |