Table 1.
Comparative study of clinical, laboratory and radiological findings of the patients reported with GFM1 mutations.
| Clinical Features | Reported cases | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Aa | Ba | Cb | Db | Ec | Fd | Ge | Hf | If | Jg | Kg | Lh | ||
| Consanguinity | + | + | − | − | − | + | − | + | + | − | − | − | |
| IUGR | + | + | + | + | − | + | + | + | − | na | na | − | |
| Microcephaly | + | − | + | + | + | + | + | + | + | na | na | − | |
| Dysmorphism | − | − | + | − | + | − | + | + | + | na | na | − | |
| Feeding difficulties | − | − | − | na | + | + | − | + | − | na | na | + | |
| Seizures | − | − | − | na | + | + | − | + | − | na | + | + | |
| Delayed growth | + | + | + | na | + | − | + | − | − | + | na | + | |
| Tonus disturbance | + | + | − | + | + | + | + | + | + | + | + | + | |
| D. delay | + | + | − | na | + | + | + | + | + | na | + | + | |
| Encephalopathy | + | + | + | na | + | + | − | + | − | + | + | + | |
| Liver failure | + | + | + | + | − | − | + | − | + | na | na | − | |
| Myopathy | − | − | − | − | − | − | − | + | − | na | na | − | |
| Lactate ↑ | + | + | + | + | + | + | + | + | + | na | na | + | |
| OXPHOS ↓ | Fib | IV, I, (III, V) | I, IV | I, IV, (III, V) | IV, (I, III, V) | I, (III−V) | I, III, IV | IV, (I) | I, IV | I, IV | IV | * | I, III, IV |
| Mu | I, IV | − | IV, V, (I) | − | I, (IV) | III | − | IV | IV | IV | * | na | |
| CNS | CC | + | + | + | − | − | + | − | − | na | na | na | + |
| Findings | WM | + | + | − | − | + | + | + | + | na | na | na | + |
| BG | + | − | − | − | + | − | + | + | na | na | na | + | |
| BS | − | − | − | − | + | − | − | + | na | na | na | − | |
| Age - onset | 10d | 7w | 1d | In utero | 3w | 2d | 2d | 1d | 2d | <1w | <1y | 2m | |
| Age–death | 27d | 5m | 9d | <1d | 16m | 2y | 8m | 4y | 20m | na | na | - | |
Coenen et al., 2004.
Antonicka et al., 2006.
Valente et al., 2007.
Smits et al., 2011.
Balasubramaniam et al., 2012.
Galmiche et al., 2012.
Calvo et al., 2012.
this report.
Described as “Combined OXPHOS deficiencies,” but respiratory chain enzyme analysis was only reported for liver cells (marked deficient complex I and IV activities).
BG, Basal Ganglia; BS, Brainstem; CC, Corpus Callosum; CNS, Central Nervous System; d, days; D, Developmental; Fib, Fibroblasts; IU, Intrauterine; m, months old; Mu, Muscle; na, not applicable/not available; OXPHOS, Oxidative Phosphorylation; IUGR, intrauterine growth restriction; y, years old; w, weeks old; WM, White Matter; +, present; −, absent.