Arginine and Citrulline for the Treatment of MELAS Syndrome [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2017 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations.
Ayman W. El-Hattab MD, FACMG +2 more
doaj +7 more sources
Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)– a cross-sectional study [PDF]
Orphanet Journal of Rare DiseasesBackround Cardiac involvement has been reported in different mitochondrial geno- and phenotypes, including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome.
Dietrich Stoevesandt +3 more
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Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome [PDF]
Diagnostics, 2021 The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is an uncommon cause of cardiac hypertrophy, fibrosis, and dysfunction.
Anna B. Reid +3 more
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Arrhythmia as a cardiac manifestation in MELAS syndrome [PDF]
Molecular Genetics and Metabolism Reports, 2015 A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial
Tamara Thomas +4 more
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Epilepsy and MELAS syndrome: literature review and clinical observation [PDF]
Эпилепсия и пароксизмальные состояния, 2023 MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) belongs to the group of mitochondrial diseases. Most MELAS syndrome cases are associated with the A3243G mutation in the MTTL1 gene.
А. М. Teplysheva +2 more
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Arrhythmias in MELAS syndrome [PDF]
Molecular Genetics and Metabolism Reports, 2016 Letter to the Editor With interest we read the article by Thomas et al. about a 44 year old female with MELAS syndrome due to the m.3243A > G mutation, which manifested cardiologically as hypertrophic cardiomyopathy and episodes of supraventricular tachycardia requiring atenolol [1]. We have the following comments and concerns.
Josef Finsterer, Sinda Zarrouk-Mahjoub
openaire +4 more sources
MELAS syndrome as a unusual cause of hypoparathyroidism: clinical case [PDF]
Остеопороз и остеопатии, 2019 MELAS syndrome belongs to the group of progressive mitochondrial diseases associated with point mutations in mitochondrial DNA, and includes mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, which can combined with endocrine ...
Diliara Sh. Umiarova +4 more
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MELAS syndrome: Case report [PDF]
Medicinski casopis, 2011 Syndrome that includes mitochondrial encephalomyo-pathy, lactic acidosis, and stroke-like episodes is briefly called MELAS. It is a rare (estimated prevalence is 16/100 000), progressive, neurodegenerative and incurable disease. It is a result of mutation of mitochondrial DNA. We report herein a case of 24-year-old woman who suffers from MELAS.
Petrović, Milutin +4 more
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Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders [PDF]
eNeurologicalSci, 2017 Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial disorders (MIDs). This report illustrates a case of MELAS syndrome with hypothyroidism and psychiatric disorders,
Yu-Xing Ge +4 more
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Case report: MELAS and concomitant presumed antiphospholipid antibody syndrome in an adult woman [PDF]
Frontiers in Neurology, 2022 Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, and other features (short stature, headaches, seizures, and sensorineural hearing loss) constitute characteristics of MELAS syndrome.
Sirisha Nouduri +5 more
doaj +5 more sources