نتایج جستجو برای: kearns sayre
تعداد نتایج: 927 فیلتر نتایج به سال:
Introduction Herein, we describe the interesting case of a 13-year-old female with Kearns-Sayre syndrome (KSS) who underwent a successful T3 ~ L3 posterior spinal instrumentation and fusion (PSIF). KSS is a rare mitochondrial myopathy with only 226 cases reported in published literature as of 1992. It is the result of deletions in mitochondrial DNA and manifests as a triad of: 1) chronic progre...
We report 2 children (patients 1 and 2) with Kearns-Sayre syndrome and 1 (patient 3) with Leigh syndrome, who underwent serial diffusion-weighted MR imaging (DWI) studies for 2.8 (patient 1), 4.2 (patient 2), and 1.0 years (patient 3). The DWI revealed the persistent hyperintense signals in the pontine and mesencephalic tegmenta. The apparent diffusion coefficient in the affected regions remain...
When mitochondrial diseases result from mutations found in the mitochondrial DNA, engineered mitochondrial-targeted nucleases such as mitochondrial-targeted zinc finger nucleases are shown to specifically eliminate the mutated molecules, leaving the wild-type mitochondrial DNA intact to replicate and restore normal copy number. In this issue, Gammage and colleagues successfully apply this impro...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید