MELAS and macroangiopathy
نویسندگان
چکیده
منابع مشابه
MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.
BACKGROUND the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS retrospective and ongoing study of an extend...
متن کاملPhenotypic heterogeneity of MELAS☆☆☆
With interest we read the article by Dvorakova et al. about 50 Czech patients carrying the m.3243ANG mutation [1]. It raises questions and concerns. Since MELAS is a progressive disease, we should be informed about the long-term follow-up findings in the 50 mutation carriers. How many of the 17 patients without clinical manifestations at inclusion developed MELAS during follow-up? How many of t...
متن کاملCerebral hyperemia in MELAS.
BACKGROUND The pathophysiology of stroke-like episodes in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is uncertain. CASE DESCRIPTION We studied a 24-year-old man with MELAS who had fluent aphasia and right hemianopia. Magnetic resonance imaging and computed tomography showed a large infarction in the parietal, temporal, and occipital lobes. We performed ...
متن کاملArrhythmias in MELAS syndrome
With interest we read the article by Thomas et al. about a 44 year old female with MELAS syndrome due to the m.3243ANG mutation, which manifested cardiologically as hypertrophic cardiomyopathy and episodes of supraventricular tachycardia requiring atenolol [1]. We have the following comments and concerns. MELAS may be associated with sudden cardiac death [2]. Did the authors consider implantati...
متن کاملMELAS: a case report.
INTRODUCTION Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare, neurodegenerative and fatal disease caused by mutations in the mitochondrial DNA. Multiple systems of the body, including the oral cavity, can be affected by this disease. An electronic search of Medline spanning the years 1985 to 2003 was carried out using the key words "MELAS, Dent...
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ژورنال
عنوان ژورنال: Medicine
سال: 2018
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000013866