Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-like Episodes
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Last Posted: Jun 24, 2024
- Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing.
Hao Cai, et al. Frontiers in genetics 2024 0 1367716 - NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.
Liao Yi-Chu, et al. Stroke 2023 0 - The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
Baek Min Seong, et al. Yonsei medical journal 2018 0 (1) 98-105 - Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation.
Lee Ha Neul, et al. Frontiers in neurology 2018 0 621 - Expanding and validating the biomarkers for mitochondrial diseases.
Maresca Alessandra, et al. Journal of molecular medicine (Berlin, Germany) 2020 0 (10) 1467-1478 - Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations.
Gramegna Laura L, et al. Annals of clinical and translational neurology 2021 0 (6) 1200-1211 - Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Gene.
Mara? Genç Hülya, et al. Molecular syndromology 2022 0 (4) 305-317 - Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
Song D, et al. Chinese medical journal 2002 0 (12) 1273-5 - High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.
Malfatti Edoardo, et al. Neurology 2013 1 (1) 100-5 - Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.
Kaufmann P, et al. Neurology 2011 11 (22) 1965-71 - [Screening of mitochondrial deoxyribonucleic acid 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in mitochondrial encephalomyopathies].
Xu Jian-biao, et al. Zhonghua yi xue za zhi 2011 4 (14) 969-72 - Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
From NCATS Genetic and Rare Diseases Information Center - 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.
Fan Hongxin, et al. The Journal of molecular diagnostics : JMD 2006 5 (2) 277-81 - Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.
Singh Rinki, et al. The Journal of molecular diagnostics : JMD 2006 5 (2) 225-30
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