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Myoclonic epilepsy associated with ragged-red fibers

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Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Kay, Cláudia Suemi Kamoi: 1 article (10/2014)
2. Werneck, Lineu Cesar: 1 article (10/2014)
3. Lorenzoni, Paulo José: 1 article (10/2014)
4. Scola, Rosana Herminia: 1 article (10/2014)
5. Silvado, Carlos Eduardo S: 1 article (10/2014)
6. Feingold, Josué: 1 article (05/2013)
7. Gigarel, Nadine: 1 article (05/2013)
8. Munnich, Arnold: 1 article (05/2013)
9. Lamazou, Frédéric: 1 article (05/2013)
10. Benachi, Alexandra: 1 article (05/2013)

Related Diseases

1. Lactic Acidosis
2. Stroke (Strokes)
06/05/1993 - "The expression of nuclear and mitochondrial oxidative phosphorylation (OXPHOS) genes was examined in the skeletal muscle of patients with Kearns-Sayre syndrome (KSS), myoclonic epilepsy associated with ragged red fibers (MERRF), and myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and compared with controls. "
05/01/2006 - "Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction."
05/01/2013 - "We have explored the impact of two disease-causing mutations [m.3243A>G myopathy, encephalopathy, lactic acidosis and stroke-like syndrome (MELAS) and m.8344A>G myoclonic epilepsy associated with ragged-red fibers (MERRF)] on mtDNA amounts in human oocytes and day 4-5 preimplantation embryos. "
04/15/2009 - "We developed a DNA biochip specialized for detection of known base substitution mutations in mitochondrial DNA causing mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and myoclonic epilepsy associated with ragged-red fibers (MERRF). "
05/01/2006 - "The 3243A>G mutation in the MTTL1 (tRNA(Leu)) gene and the 8344A>G mutation in the MTTK (tRNA(Lys)) gene are the most common mutations found in mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes and myoclonic epilepsy associated with ragged-red fibers, respectively. "
3. Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
4. Mitochondrial Diseases (Mitochondrial Disease)
5. Muscular Diseases (Myopathy)

Related Drugs and Biologics

1. Mitochondrial DNA (mtDNA)
2. A-Form DNA (A-DNA)
3. Lactic Acid
4. Lys Transfer RNA
5. Leu Transfer RNA
6. DNA (Deoxyribonucleic Acid)
7. erucylphosphocholine