نتایج جستجو برای: mitochondrial encephalomyopathy
تعداد نتایج: 132426 فیلتر نتایج به سال:
General anesthesia with remimazolam in a patient with mitochondrial encephalomyopathy: a case report
Mitochondrial disease enters the differential diagnosis of a wide range of CNS and PNS presentations. Respiratory chain ATP production is under bigenomic genetic control. Adult mitochondrial diseases are mainly caused by mutations in mitochondrial DNA (mtDNA), and nuclear gene defects usually present with more severe childhood phenotypes. Recently, mutations in certain nuclear genes--for exampl...
AIM We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis. MATERIAL AND METHODS DNA sequencing was used to detect and val...
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