Results 81 to 90 of about 5,374 (184)
A MELAS syndrome family harboring two mutations in mitochondrial genome [PDF]
, 2018 Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous mitochondrial disorder with variable clinical symptoms.
이향운, 최병옥
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CNS Neuroscience &Therapeutics, Volume 32, Issue 6, June 2026.This study presents the largest cohort of patients with the m.10191 T > C mutation to date, delineating a continuous spectrum from LS to MELAS‐like phenotypes and systematically characterizing clinical manifestations, neuroimaging features, heteroplasmy–phenotype correlations, and prognostic factors.
Zimeng He +15 more
wiley +1 more source
Exploring mTOR inhibition as treatment for mitochondrial disease
Annals of Clinical and Translational Neurology, 2019 Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment.
Abigail Sage‐Schwaede +6 more
doaj +1 more source
Current Topics of Progressive Cardiac Conduction Disease
Journal of Arrhythmia, Volume 42, Issue 3, June 2026.Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo +7 more
wiley +1 more source
A case of myocardial involvement in patient with MELAS syndrome [PDF]
, 2004 MELAS syndrome is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, and cardiac involvement also frequently occurs. A 42-year-old female was admitted because of stroke like episodes and dyspnea.
홍그루 +6 more
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Arquivos de Neuro-Psiquiatria, 2007 PURPOSE: It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like ...
Adriana Bastos Conforto +6 more
doaj +1 more source
Cochlear implantation in patients with MELAS syndrome [PDF]
MELAS syndrome ( mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a rare congenital disorder of mitochondrial DNA (mt-DNA).
Johnson IJ, Anari S, Karkos PD
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MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach [PDF]
, 2016 A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position
Anna Rubegni +23 more
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BMC Nephrology, 2012 Background MELAS syndrome (MIM ID#540000), an acronym for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with protean manifestations and occasional kidney involvement ...
Piccoli Giorgina +8 more
doaj +1 more source
Syndrome MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) de révélation tardive [PDF]
, 2012 Le syndrome MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) est peu fréquent et caractérisé principalement par des accidents vasculaires cérébraux précoces, des crises d'épilepsie et des céphalées d'allure ...
Lemineur, Aurélie +2 more
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