Table 1.
Syndromic classification and clinical features of individuals with the m.13094T>C mutation (n = 24).
| Pedigree patient | Relation | AO/AL* | Syndrome | Clinical features |
Heteroplasmy (%) |
||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sz | SLEs | Cog | Str | ON | Pt | Ap | DD | At | PN | LA | Cardiac | Other | B | U | Mu | ||||
| 1 (F) | Proband | 17/37* | LHON/MELAS | + | + | + | − | + | − | − | − | + | + | − | − | − | 0 | 55 | n.d. |
| 1·1 (M) | Offspring | 2 mths/9 mths* | LS | − | − | n.k. | − | − | − | + | + | − | n.k. | + | − | − | n.d | n.d. | 65 |
| 1·2 (F) | Offspring | 10/14* | MELAS/LS | + | + | + | + | + | + | − | − | + | + | + | − | − | 46 | 67 | 90 |
| 2 (F) | Proband | 12/30 | SCA/MELAS | + | + | + | − | − | + | − | − | + | + | − | − | − | 9 | 40 | 35 |
| 2·1 (F) | Mother | n.k./49 | Ataxia | − | − | − | − | − | − | − | − | + | − | − | − | − | 3 | 22 | n.d. |
| 2·2 (F) | Maternal grandaunt | −/74 | None | − | − | − | − | − | − | − | − | + | − | − | − | Ischaemic stroke, tremor | 0 | n.d. | n.d. |
| 2·3 (M) | Maternal cousin | 4 mths/1.5* | LS | n.k. | n.k. | n.k. | n.k. | n.k. | n.k. | + | n.k. | n.k. | n.k. | n.k. | n.k. | − | n.d. | n.d. | n.d. |
| 2·4 (M) | Maternal cousin | 5/43 | LS-like/SCA | − | − | − | + | + | − | − | − | + | − | − | − | − | 29 | n.d. | n.d. |
| 3 (M) | Proband | 6 wks/5.4 mths* | LS | + | − | n.k. | + | − | + | + | + | − | − | + | − | − | 76 | 81 | 80 |
| 3·1 (F) | Mother | −/20s | Unaffected | − | − | − | − | − | − | − | − | − | − | − | − | − | 19 | 45 | n.d. |
| 4 (M) | Proband | 4/6* | LS | − | − | − | + | − | + | + | + | + | − | Raised CSF | HCM | Spasticity | n.d. | n.d. | 71 |
| 4·1 (F) | Mother | −/n.k. | Unaffected | − | − | − | − | − | − | − | − | − | − | − | n.k. | − | 4 | 9 | n.d. |
| 5 (F) | Proband | 13/14* | MELAS/LS | + | + | + | + | − | + | + | − | − | − | + | − | Myoclonus | n.d. | n.d. | 28 |
| 6 (M) | Proband | 2.25/3* | LS | − | − | n.k. | + | − | + | + | + | + | − | − | Brady | − | 45 | n.d. | 58 |
| 7 (M) | Proband | 7/21 | LHON | − | − | − | − | + | − | − | − | − | − | − | − | − | 26 | n.d. | n.d. |
| 7·1 (M) | Brother | 6/20 | Subclinical ON | − | − | − | − | + | − | − | − | − | − | − | − | − | 35 | n.d. | n.d. |
| 7·2 (F) | Mother | −/47 | Unaffected | − | − | − | − | − | − | − | − | − | − | − | − | − | 7 | n.d. | n.d. |
| 8 (F) | Proband | 34/35* | MELAS/LS | + | + | + | + | − | + | − | − | + | − | − | PFO | Myoclonus | n.d. | n.d. | 83 |
| 8·1 (F) | Mother | −/70s | Unaffected | − | − | − | − | − | − | − | − | − | − | − | − | − | 0 | 6 | n.d. |
| 9 (F) | Proband | 27/34 | MELAS | + | + | + | − | – | – | − | − | + | – | + | – | – | 5 | n.d. | 80 |
| 10 (M) | Proband | 22/24 | LS | − | − | − | + | – | + | + | − | + | − | − | LVH | NIV B/L INO | 38 | n.d. | 61 |
| 11 (M) | Proband | 2/30 | LS | – | – | – | + | + | – | + | − | + | – | Raised CSF | – | PEG, dystonia, trachy, facial weakness | n.d. | n.d. | n.d. |
| 12 (M) | Proband | 1/4 | LS | − | − | − | + | − | + | − | + | − | − | + | − | − | n.d. | n.d. | 41 (Fib) |
| 13 (M) | Proband | 1/14* | LS | + | − | + | + | − | + | + | + | n.k. | − | + | − | Trachy, PEG | 49 | n.d. | 52 |
| Total | 8/23 | 6/23 | 7/20 | 11/23 | 6/23 | 10/23 | 9/24 | 6/23 | 12/22 | 3/22 | 9/23 | 4/22 | |||||||
* = deceased, AO = age of onset, AL = age of last follow up or death, Ap = apnoea, At = ataxia, B = blood, B/L INO = bilateral inter-nuclear ophthalmoplegia, Brady = bradycardia, Cog = cognitive impairment, Dev delay = developmental delay (including motor and speech), F = female, Fib = fibrolast, HCM = hypertrophic cardiomyopathy, HTN = hypertension, LA = lactic acidosis, LS = Leigh syndrome, LVH = left ventricular hypertrophy, M = male, MELAS = mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, mths = months, Mu = muscle, n.d. = not done, NIV = non-invasive ventilation, n.k. = not known, ON = optic neuropathy, PEG = percutaneous endoscopic gastrostomy, PFO = patent foramen ovale, PN = peripheral neuropathy, Psy = neuropsychiatric symptoms such as severe depression, anxiety or personality change, Pt = ptosis, RF = respiratory failure, SCA = spinocerebellar ataxia, SLE = stroke-like episodes, Str = strabismus, Sz = seizures, trachy = tracheostomy, U = urine, yrs. = years.