Table 1.
Characteristics of patients
| Pt 1 | Pt 2 | Pt 3 | Pt 4 | Pt 5 | Pt 6 | Pt 7 | Pt 8 | Pt 9 | Pt 10 | Pt 11 | Pt 12 | Pt 13 | Pt 14 | Pt 15 | Pt 16 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age at death | 60 | 57 | 45 | 36 | 42 | 20 | 30 | 45 | 42 | 58 | 34 | 55 | 40 | 24 | 59 | 50 |
| Gender | F | F | M | F | F | F | M | M | F | M | F | M | F | F | M | M |
| Genotype | m.3243A >G | m.3243A >G | m.3243A >G | m.3243A >G | m.3243A >G | m.3243A >G | m.3243A >G | m.3243A >G | m.8344A >G | m.8344A>G | m.13094T>C | m.14709T>C | Single, large-scale mtDNA deletion | POLG (p.Ala467Thr, p.Trp748Ser) and multiple mtDNA deletions | POLG (p.Gly848Ser, p.Ser1104Cys) and multiple mtDNA deletions | POLG (p.Ala467Thr, p.X1240Cys)and multiple mtDNA deletions |
| Disease duration (years) | 33 | 32 | 8 | 15 | 22 | 10 | 11 | 15 | 37 | 20 | 2 | 21 | 37 | 4 | 37 | 35 |
| Clinical diagnosis | MELAS, depression, encephalopathy, myopathy, constipation | MELAS, depression, cardiomyopathy, irritable bowel | MELAS, dementia, encephalopathy, constipation. | MELAS, dementia, encephalopathy, optic atrophy | MELAS, myoclonus, myopathy, depression | MELAS, dementia, encephalopathy, deafness, irritable bowel | Cardiomyopathy, peripheral neuropathy, myopathy, opthalmoplegia | MELAS, epilepsy | MERRF, myopathy, myoclonus, depression | MERRF, myopathy, myoclonus | MELAS/Leigh disease, myoclonus, fatigue | Dementia, peripheral neuropathy, diabetes, opthalmoplegia | KSS, encephalopathy, depression. | Encephalopathy, dementia, peripheral neuropathy, depression | Opthalmoplegia, dementia, peripheral neuropathy, depression. | Sensory neuronopathy, encephalopathy, dementia. |
| Ataxia | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Migraine | + | + | + | |||||||||||||
| Stroke-like episodes | + | + | + | + | + | + | + | + | ||||||||
| Seizures | + | + | + | + | + | + | + | + | + | |||||||
| Previously published | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a) | (Lax et al., 2012a, b) | (Lax et al., 2012a, b) | (Betts- Henderson et al., 2009; Lax et al., 2012a, b) | (Lax et al., 2012a, b) |
F = female; KSS = Kearns–Sayre syndrome; M = male; MERRF = myoclonic epilepsy with ragged red fibres; Pt = Patient; + denotes the presence of symptom.