RELIABILITY & VALIDITY PRPP-ASSESSMENT IN CHILDREN 163 7 Table 2 Demographics children. Characteristics Total Group Global low functioning Low cognitive functioning and moderate-to-normal ambulation Global Moderate functioning Participants, n 13 5 4 4 Age, years, range (median) 3 – 17 (14) 3 – 16 (10) 6 – 17 (14, 16) 8 – 16 (15, 16) Boys, n 7 3 1 3 nDNA / mtDNA, n 5 / 8 5 / 0 2 / 2 1 / 3 Genetic defects, gene (mutation) FBXL4 (c.1361A>C); OPA1 (c.910C>T); PDHX (deletion); SDHA (c.64-2A>G); SERAC1 (c.1765G>A) MTATP6 (m.8993T>G); OPA1 (c.910C>T); RARS2 (c.442A>G- c.1519G>A); MTTL1 (m.3243A>G) MTATP6 (m.8993T>G); MTND5 (m.13094T>C); TAZ (c.788_794del); MTTL1 (m.3243A>G) FBXL4 = F-box and Leucine-rich repeat protein 4; MTATP6 = ATP synthase 6; MTND5= Mitochondrial Complex I, subunit ND5; MTTLI= Transfer RNA, mitochondrial, leucine 1; OPA1= optic atrophy 1; PDHX = Pyruvate dehydrogenase complex, component X; RARS2= Arginyl-tRNAse synthetase 2; SDHA = succinate dehydrogenase complex, subunit A; SERAC1 = Serine active site-containing protein 1; TAZ= Tafazzin
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