229 自主選択保育(ドリカムタイム)を通して自己決定がおよぼす幼児の満足度(自己肯定感と自己有能感)についての考察(口頭発表II(保育方法3))

Abstract

Autosomal dominant PEO is associated with mutations in a number of nuclear genes affecting the intergenomic communication with mitochondrial DNA. We report a Spanish family showing a mild phenotype characterized by autosomal dominant ocular myopathy and morphological signs of mitochondrial dysfunction, that harboured a novel c.1071G>C (p.R357P) mutation in the hot-spot linker region of the twinkle protein.