CHAPTER 2 42 Table 1 Clinical and genetic characteristics of the children Gender (A) Age (years) Level of cognitive development (B) Level of motor development (C) Score on Hoffer Scale (D) Level of speech ability (E) Level of functional abilities daily activities (F) Fatigue score (G) Gene (H) Mutation Profile: Global low functioning (N=5) F 5 1 2 1 4 2 71 OPA1 c.910C>T M 6 1 3 1 1 1 40 FBXL c.1361A>C M 12 1 2 2 3 2 49 SDHA c.64-2A>G M 18 1 2 1 3 3 ? RARS2 c.442A>G; c.1519G>A M 18 1 2 3 3 2 49 ATP6 m.09176T>C Profile: Low cognitive functioning and moderate to normal ambulation (N=5) M 13 2 4 4 6 4 58 MT-TL1 m.3243 A>G F 13 1 2 5 5 3 ? RARS2 c.442A>G; c.1519G>A M 14 1 3 5 3 2 49 MTFMT c.626C>T; c.766C>T M 16 1 3 4 2 3 32 ATP6 m.8993T>G F 17 1 3 5 6 4 54 MT-TL1 m.3243 A>G Profile: Global moderate functioning (N=7) M 4 3 3 4 5 3 65 TAZ c.788_794del M 4 3 4 4 3 3 72 ATP6 m.8993T>G F 5 3 3 4 6 3 72 NDUFS7 c.364G>A F 5 3 4 4 6 3 39 MT-TL1 m.3243 A>G M 7 3 2 4 6 3 66 ATP6 m.09185T>C M 7 3 4 4 6 3 38 mt-tRNASer m.7507A>G M 13 3 3 4 5 4 58 MT-TL1 m.3243 A>G
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