Clinical characteristics, structural finding, biochemical and genetic analyses in two patients with adPEO
| Patient 1 | Patient 2 | Normal value | |
|---|---|---|---|
| M, myopathic; N, neuropathic; NCP, non-collagen protein; ND, not done. | |||
| Clinical characteristics and routine analyses | |||
| Age at onset of PEO/gender | 15/M | 50/F | – |
| Age of onset of systemic manifestations | 49 | 55 | |
| Exercise intolerance | − | + | |
| Additional clinical findings | Severe cardiomyopathy, mild myopathy | Generalised myopathy, axonal neuropathy, diabetes, hearing loss | |
| Creatine kinase (U/L) | 32 | 54 | <80 (men); <60 (women) |
| Electromyography | M | M/N | – |
| Muscle biopsy | |||
| Structural findings | |||
| Ragged red fibres (%) | 8% | 10% | – |
| Mitochondrial abnormalities on electron microscopy | ND | Yes | |
| Biochemical analysis | |||
| NADH/coQ-oxidoreductase (U/g NCP) | ND | 22.3 | 12.0–40.0 |
| Succinate/cytochrome c oxidoreductase (U/g NCP) | ND | 9.9 | 6.0–24.0 |
| Cytochrome c oxidase (U/g NCP) | ND | 126.0 | 90.0–281.0 |
| Citrate synthase (U/g NCP) | ND | 111.0 | 45.0–105.0 |
| Genetic analysis | |||
| MtDNA | |||
| tRNA genes | Normal | Normal | |
| Southern blot | ND | Multiple deletions | |
| Nuclear genes | |||
| Sequencing of ANT1 | Normal | Normal | |
| Sequencing of C10orf2 (Twinkle) | Normal | F485L | |
| Sequencing of POLG1 | Normal | Normal | |