FEATURES | Sex/consan. | Mutation | Status | Onset of cardio-myopathy | Onset of cataract | Plasma lactic acidosis | Exercise intolerance | Motor develop. delay | Muscle weak. | Muscular hypotonia | Tachydys-pnea | OXPHOS defect | Other clinical features |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Case-1 | Male/+ | c.523_524delAT (p.Ile175Tyrfs*2)¥ | Dead 7 m | 5 m | 1 m | + | Feeding difficulty | + | + | + | + | Nystagmus, floppy infant | |
Case-2A | Male/- (Fm) | c.424-1G>A (splicing defect)¥ | Dead 10 d | Birth | Birth | + | - | - | - | - | + | - | |
Case-3A | Female/- (Fm) | c.424-1G>A (splicing defect)¥ | Dead 4 m | Birth | Birth | + | Feeding difficulty | - | - | - | - | Eosinophilia | |
Case-4 | Female/- (Fm) | c.409C>T (p.Arg137*)¥ | Dead 3 m | + | + | + | I | Esotropia, IUR, feeding problems, MMA elevation in urines (14 , N>8), total and free carnitine elevation in blood, fatty infiltrations in heart biopsy | |||||
Case-5 | Male/- | c.409C>T (p.Arg137*)¥ | Dead 6 m | Birth | Birth | + | Feeding difficulty | + | + | + | + | I | Esotropia, nystagmus, floppy infant |
Case-6 | Male/- (Fm) | c.871C>T (p.Gln291*), c.1035dup (p.Ile346Tyrfs*39) | Alive 3 m | Birth | Birth | + | - | Mild retardation | Mild | Mild | + RSV pneumonia | - | |
Case-7 | Female/- | c.297+2T>C (p.Lys75Glnfs*12), c.841C>T (p.Arg281*) | Alive 10 y | Birth | Birth | - | + | + | + | + | - | I | Cervical meningocele, ragged red fibers (15%), COX-deficient fibres (1-2%) |
Case-8 | Male/+ | c.877+3G>T (splicing defect)¥ | Alive 15 y | + | Birth | - | + | + | - | - | - | ||
PC-1 [4] | Male/- | c.3G>C (p.Met1?), c.517C>T (p.Gln173*) | Alive 36 y | + | 3 m | + | + | + | - | - | - | Floppy infant | |
PC-2 [4] | Male/- (Fm) | c.3G>C (p.Met1?), c.672C>A (p.Tyr224*) | Alive 35 y | + | 3 m | On exercise | + | + | - | - | - | - | - |
PC-3B[4] | Male/- (Fm) | c.1131+5G>A (splicing defect)¥ | Dead 12 y | + | 18 m | - | + | - | + | + | - | I, II+III, IV, V, PDHc | - |
PC-4B[4] | Female/- (Fm) | c.1131+5G>A (splicing defect)¥ | Alive 10 y | + | 5 m | + | + | - | - | - | - | I, II+III, IV, V, PDHc | - |
PC-5 [4] | Female/+ | c.1131+5G>A (splicing defect)¥ | Alive 41 y | + | Birth | + | + | - | - | - | V | Stroke | |
PC-6 [4] | Female/- | c.221+1G>A (splicing defect), c.1213C>T (p.Gln405*) | Alive 12 y | + | Birth | + | - | - | + | - | - | I, II, III, IV, very high CS | - |
PC-7 [4] | Male/- (Fm) | c.412C>T (p.Arg138*), c.1137_1143del (p.Gly380Leufs*16) | Dead 11 m | + | Birth | On exercise | - | Moderate retardation | - | + | - | - | Fatty infiltrations in muscle biopsy |
PC-8 [4] | Female/- | c.672C>A (p.Tyr224*), c.870del (p.Gln291Argfs*8) | Dead 10 m | + | 4 m | + | - | - | - | - | - | I, II, III, IV, V, very high CS | - |
PC-9 [4] | Male/- | c.101+?_222-?del (ND)¥ | Dead 8 m | + | Birth | + | - | - | - | - | - | I, II, III, IV, V, very high CS | Axial hypotonia, upper left limbs paresis, seizures, brain ventricles dilation |
PC-10 [4] | Male/- | c.306C>T (p.Tyr102*), c.841C>T (p.Arg281*) | Dead 18 d | + | Birth | + | - | - | - | - | + | I, II+III, IV, V | - |
PC-11 [16] | Female/- | c.297+2T>C (p.Lys75Glnfs*12), c.1170T>A (p.Tyr390*) | Dead 18 y | + | <1 year | + | + | I, III, IV | Fatigue, failure to thrive, recurrent headaches, osteopenia and premature ovarian failure, severe mtDNA depletion in skeletal muscle | ||||
PC-12 [16] | Female/+ | c.1131+1G>T (p.Ser350Glufs*19)¥ | Dead 4 d | Birth | + | + | + | I, III, IV | Pulmonary hypertension, marked respiratory distress, thrombocytopenia, severe mtDNA depletion in skeletal muscle | ||||
PC-13 [6] | Female/+ | c.979A>T (p.Lys327*)¥ | Dead 5 m | Birth | Birth | + | Upper respiratory tract infection | ||||||
PC-14 [6] | Female/+ | c.979A>T (p.Lys327*)¥ | Dead 12 d | Birth | Birth | + | I, I+III, II+III, III, IV, high CS | ||||||
PC-15 [6] | Male/+ | c.979A>T (p.Lys327*)¥ | Dead 2 d | Birth | Birth | ||||||||
PC-16 [6] | Male/+ | c.979A>T (p.Lys327*)¥ | Dead 18 d | Birth | Birth | ||||||||
PC-17 [6] | Male/+ | c.3G>A (p.Met1?)¥ | Dead 6 m | Birth | Birth | + | + | + | Cerebellar non-hemorrhagic stroke, ventricular , growth delayfibrillation | ||||
PC-18 [6] | Male/+ | c.3G>A (p.Met1?)¥ | Alive 2 y | 2 m | Birth | - | - | - | - | Cerebellar non-hemorrhagic stroke, ventricular, modest growth delayfibrillation | |||
PC-19 [18] | Female/+ | c.424-3C>G (p.Ala142Thrfs*4)¥ | Alive 17 y | - | Birth | - | - | - | - | - | - | Urine organic acid profile: moderately elevated lactate, 3-hydroxyisovaleric, 3-methylglutaric and 3-methylglutaconic acids | |
PC-20 [18] | Male/+ | c.424-3C>G (p.Ala142Thrfs*4)¥ | Alive 11 y | - | Birth | - | - | - | - | - | - | Urine organic acid profile showed moderately elevated lactate, 3-hydroxyisovaleric, 3-methylglutaric and 3-methylglutaconic acids | |
PC-21 [18] | Male/+ | c.424-3C>G (p.Ala142Thrfs*4)¥ | Alive 7 y | - | Birth | - | - | - | - | - | - | Urine organic acid profile showed moderately elevated lactate, 3-hydroxyisovaleric, 3-methylglutaric and 3-methylglutaconic acids | |
SUMMARY | 17 M: 12 F/13 consan. | 20 homozygous; 19 different mutations | 17 †; 16 † <1 y | 25/29; 10 at birth | 28/29 up to 18 m; 21 at birth | 20/27 | 6/16; + 3 feeding difficulties | 10/22 | 8/23 | 7/22 | 7/22 | 3 only I; 1 only V; 9 combined |