Table 2.
Summary of the clinical, histological, biochemical and genetic data of our five patients carrying mutations in ETFDH
| Patient | Family history | Disease onset (years) | Clinical signs | Muscle histology | RC I (normal 0.17–0.56) | RC II +III (normal 0.08–0.45) | RC IV (normal 1.1–5.0) | CS (normal 45–100) | CoQ10 nmol/UCS (normal 2.7–7.0) | ETFDH mutations |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 F | Negative | 32 | Proximal myopathy, exercise intolerance, hepatopathy, | Lipid-accumulation RRF |
0.05 | 0.03 | 0.7 | 173 | 0.6 | het P456L het K590E |
| 2 M | Consanguinous parents | 29 | Proximal muscle weakness, scapular winging, myalgia, CK up to 1000 U/L | Lipid-accumulation RRF |
0.09 | 0.04 | 0.9 | 172 | 0.8 | hom L377P |
| 3 M | Consanguinous parents, one affected sister | 12 | Exercise intolerance, fatigue, CK 2745 U/L | Lipid-accumulation COX-ve fibers SDH-ve fibers |
0.00 | 0.01 | 0.1 | 149 | 0.8 | hom L377P |
| 5 M | Consanguinous parents, one affected sister | 12 | Subacute muscle weakness, exercise intolerance, myalgia, CK up to 4188 U/L | Lipid-accumulation | 0.02 | 0.02 | 0.7 | 173 | 1.28 | hom L377P |
| 7 F | Consanguinous parents | 12 | Proximal muscle weakness, myalgia, CK 538 U/L | Lipid-accumulation | 0.00 | 0.01 | 0.4 | 193 | 0.87 | hom P483L |
Note: RC complex activities are normalized to citrate synthase (CS); for the RC complexes and for CS : 1 unit means 1 μmol/min; for the coenzyme Q10 from control measurements (n = 25) median value was 4.7. CK normal<180 U/l.