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A case of myocardial involvement in patient with MELAS syndrome [PDF]
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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Major cerebral vessels have been proposed as a target of defective mitochondrial metabolism in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS).
Cortesi, Irene +7 more
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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
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Stroke in young adult with MELAS syndrome [Genç i·nme nedeni· olarak MELAS sendromu]
MELAS syndrome, a rare mitochondrial disorder, is characterized by mitochondrial encephalopathy, lactic acidosis, recurrent stroke-like episodes. Seizures, headaches, nausea and vomiting, exercise intolerance, and ragged-red fibers may be seen. A 20 year-
Özeren A. +4 more
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Psychiatric disturbances in a patient with melas syndrome: A case report
Introduction Mitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age and its one of a number of mitochondria syndromes that share the common characteristics of encephalopathy and myopathy.
RIZZA, Maria Cristina +7 more
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MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach [PDF]
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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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
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Aim: We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic ...
Zhou Jian +4 more
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Stroke in young adult with MELAS syndrome
MELAS Sendromu; mitokondrial ensefalopati, laktik asidoz, tekrarlayan inme benzeri epizodlarla karekterize nadir görülen mitokondrial bir hastalıktır. Nöbetler, başağrısı, bulantı, kusma, egzersiz intoleransı ve ragged red fiber görülür.
Yakup Sarıca +4 more
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A MELAS syndrome family harboring two mutations in mitochondrial genome
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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