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线粒体基因组不同位点的突变都会影响到线粒体转译自身基因的功能和导致线粒体DNA(mtDNA)依赖性呼吸链复合体的部分缺陷,它们与临床上不同的线粒体疾患相关。一种新的母系遗传性疾病,特征为成人肌病和心肌病并存,而无神经系统受累,存在于单一的大家系的成员中。在指令 t-RNA的mtRNA 基因中,一种异质性的新的突变已被鉴定。该家系可供研究的21例中,5例临床发病,10例无症状母系成员,6例正常父系成员。家系中所有母系成员无论有无发病均存在蓬毛状红纤维。父系成员肌肉活检标本
Mutations at different sites in the mitochondrial genome affect the function of mitochondria in translating their own genes and some of the defects that result in mitochondrial DNA (mtDNA) -dependent respiratory chain complexes that are associated with clinically different mitochondrial disorders. A new maternally inherited disease characterized by the coexistence of myopathy and cardiomyopathy in adults without involvement of the nervous system and present in members of a single large family. In the mtRNA gene that directs t-RNA, a heterogeneous new mutation has been identified. Of the 21 families available for this study, 5 were clinically diagnosed, 10 asymptomatic maternal members and 6 normal paternal members. All maternal members of the pedigree have either hairy red fibers, regardless of their presence or absence. Paternal members muscle biopsy specimens