Case studies of two families with MIDD and MELAS: heteroplasmy level in m. 3243A>G mutation and the first report on m.3271T>C mutation in Colombia

Granadillo De Luque, Jorge Luis; Luna, Manuel; Hernández-Reina, Leonardo; Arteaga-Diaz, Clara; Arteaga-Díaz, Juan Manuel.
Case reports (Universidad Nacional de Colombia. En línea) ; 2(1): 27-36, 2016.
Artículo en Inglés | LILACS, COLNAL | ID: biblio-987751

Documentos relacionados

  1. Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A > G mutation.
  2. Transient Postictal Hyperglycemia as a Diagnostic Clue of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes.
  3. Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.
  4. Mitochondrial stroke-like episodes: The search for new therapies.
  5. Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms?
  6. Independent origin for m.3243A>G mitochondrial mutation in three Venezuelan cases of MELAS syndrome.
  7. Multiomics analysis reveals serine catabolism as a potential therapeutic target for MELAS.
  8. Glutamine metabolism in diseases associated with mitochondrial dysfunction.
  9. High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
  10. A case of exacerbated encephalopathy with stroke-like episodes and lactic acidosis triggered by metformin in a patient with MELAS.