AARS 2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy
نویسندگان
چکیده
منابع مشابه
MR demonstration of leukoencephalopathy associated with mitochondrial encephalomyopathy: case report.
The mitochondrial encephalomyopathies are a heterogeneous group of disorders characterized by mitochondrial dysfunction that produce multisystem symptoms. This disorder affects both the central and peripheral nervous systems, skeletal muscles, heart, endocrine glands, gastrointestinal tract, hematopoietic system, and kidneys (Table 1) [1]. Patients with mitochondrial encephalomyopathy can be di...
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mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...
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The alpha-keto acid dehydrogenase complex and its component enzymes, lactate dehydrogenase, pyruvate carboxylase, cytochrome c oxidase, succinate-cytochrome c reductase, NADH-cytochrome c reductase, and the concentration of cytochromes and enzymes of beta-oxidation in muscle from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes were studied and no ...
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Alicia M. Celotto,1,2 Adam C. Frank,1,2 Steven W. McGrath,1,2 Tim Fergestad,3 Wayne A. Van Voorhies,5 Karolyn F. Buttle,4 Carmen A. Mannella,4 and Michael J. Palladino1,2 1Department of Pharmacology and 2Pittsburgh Institute for Neurodegenerative Diseases, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, 3Laboratory of Genetics, University of Wisconsin–Madison, Madis...
متن کاملNon-epileptic myoclonus and mitochondrial encephalomyopathy.
Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arrhythmic myoclonus, an arrthesthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases. Intermit...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2019
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.582