Vaccination triggering onset of m.8993T > G associated Leigh syndrome
نویسندگان
چکیده
منابع مشابه
Late onset Leigh syndrome mimicking central nervous system vasculitis
Leigh syndrome is typically a disorder of infancy and early childhood. Only a few patients with late onset Leigh syndrome have been reported [1]. The disorder is most likely underdiagnosed in adolescents and adults. In the past, many adults with Leigh syndrome were misdiagnosed with multiple sclerosis [2,3].Here, we describe a 17 year old girl with Leigh syndrome mimicking as central nervous sy...
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This article was presented by the author at the Vaccination Seminar of May 26, 1972, National University Medical School.
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Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...
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Leigh Syndrome (LS) is the most common early-onset, progressive mitochondrial encephalopathy usually leading to early death. The single most prevalent cause of LS is occurrence of mutations in the SURF1 gene, and LS(Surf1) patients show a ubiquitous and specific decrease in the activity of mitochondrial respiratory chain complex IV (cytochrome c oxidase, COX). SURF1 encodes an inner membrane mi...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2018
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2018.04.001