Table 1.
Summary of patient and control subjects included in the study
| Subject | Designation | Age (at biopsy) | Sex | Nature of mutation | Biochemical features |
|---|---|---|---|---|---|
1A 
|
Control | 42 | F | – | – |
2A 
|
Control | 35 | M | – | – |
3A 
|
Control | 42 | M | – | – |
4A 
|
Control | 47 | M | – | – |
5A 
|
Control | 22 | F | – | – |
1B 
|
ISCU myopathy | 66 | F | ISCU g.7044 G>C | Fe-S enzyme deficiency, especially of aconitase and complex II |
2B 
|
ISCU myopathy | 42 | M | ISCU g.7044 G>C | Fe-S enzyme deficiency, especially of aconitase and complex II |
3B 
|
ISCU myopathy | 42 | M | ISCU g.7044 G>C | Fe-S enzyme deficiency, especially of aconitase and complex II |
4B 
|
ISCU heterozygote | 43 | M | −/ISCU g.7044 G>C | – |
1C 
|
Mitochondrial myopathy | 63 | M | mtDNA: A5543C tRNAtrp | Multiple respiratory chain deficiencies, especially complex IV |
2C 
|
Mitochondrial myopathy | 37 | F | mtDNA: cytochrome b mutation | Selective complex III deficiency |
3C 
|
Mitochondrial myopathy | 31 | M | mtDNA: T10010C tRNAgly | Multiple respiratory chain deficiencies, especially complex IV |
4C 
|
Mitochondrial myopathy | 26 | F | mtDNA: large-scale mtDNA deletion | Multiple respiratory chain deficiencies |
5C 
|
Mitochondrial myopathy | 29 | F | mtDNA: cytochrome b mutation | Selective complex III deficiency |