DAILY ACTIVITIES OF CHILDREN WITH MITOCHONDRIAL DISORDER 43 2 Total F: N=5 M: N=12 Range: 4–18 1: N= 9 2: N=1 3: N=7 4: N=0 1: N=0 2: N=6 3: N=7 4: N=4 5: N=0 1: N=3 2: N=1 3: N=1 4: N=9 5: N=3 1: N=1 2: N=1 3: N=5 4: N=1 5: N=3 6: N=6 1: N=1 2: N=2 3: N=11 4: N=3 Range: 32–72 2 unknown A: M=male, F=Female; B: 1: extremely low, 2: low, 3: average, 4: good; C: 1: spasticity, 2: ataxia, 3: extremely delayed, 4: delayed, 5: normal development; D: 1: nonambulation, 2: non-functional ambulation, 3: household ambulation, 4: community ambulation, 5: normal ambulation; E: 1: no oral communication possible, 2: communication with a known person, 3: frequent repetitions, 4: incidental repetitions, 5: effective despite small problems, 6: effective communication; F: 1: not self-independent, 2: minimal self-independent, 3: sufficient self-independent, 4: fully self-independent; G: the higher the score, the better the (by fatigue impacted) health related quality of life, ?: missing data; H: OPA1= Optic Atrophy 1; FBXL = F-box and leucine rich repeat proteins; SDHA = succinate dehydrogenase complex, subunit A; RARS2 = Arginyl-tRNA synthatase 2; ATP6 = ATP synthase 6; MT-TL1 = mitochondrial tRNA leucine; MTFMT = mitochondrial methionyl-tRNA formyltranferase; TAZ = Taffazin; NDUFS7 = NADH-Ubiquinone Oxidoreducase Fe-S protein 7; mt-tRNA Ser = mitochondrial tRNA Serine.
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