Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-like Episodes
What's New
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
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: