Respiratory chain complex III deficiency in patients with tRNA-leu mutation
نویسندگان
چکیده
منابع مشابه
Respiratory chain complex III deficiency in patients with tRNA-leu mutation.
The aim of this study was to investigate the clinical and genetic profiles of mitochondrial disease resulting from deficiencies in the respiratory chain complex III. Three patients, aged between 8 months and 12 years, were recruited for this study. The activities of mitochondrial respiratory chain complexes in the peripheral leucocytes were spectrophotometrically measured. The entire mitochondr...
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OBJECTIVES Isolated complex IV (cytochrome c oxidase) deficiency is one of the most frequent respiratory chain defects in mitochondrial disorders (MIDs) and usually occurs together with severe pediatric or rarely adult multisystem disease. Here we report an adult with isolated complex IV deficiency with unusually mild clinical manifestations. CASE REPORT A 50-year-old man had developed genera...
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ژورنال
عنوان ژورنال: Genetics and Molecular Research
سال: 2015
ISSN: 1676-5680
DOI: 10.4238/2015.december.28.12