Results 11 to 20 of about 117,949 (253)
Novel NARS2 variant causing leigh syndrome with normal lactate levels
Human Genome Variation, 2022 Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation.
Ryosuke Tanaka +7 more
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Ocular manifestations in Leigh syndrome [PDF]
Korean Journal of Pediatrics, 2010 Purpose : Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods :
Kyo Ryung Kim +5 more
doaj +1 more source
Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement
Journal of Behçet Uz Children's Hospital, 2022 Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a substantial place in clinical practice. In this study, the clinical, radiological, electrophysiological
Çağatay Günay +8 more
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Neurobiology of Disease, 2022 Genetic mitochondrial diseases are the most frequent cause of inherited metabolic disorders and one of the most prevalent causes of heritable neurological disease. Leigh syndrome is the most common clinical presentation of pediatric mitochondrial disease,
Rebecca Bornstein +9 more
doaj +1 more source
Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice [PDF]
PeerJ, 2017 Background The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans.
Mei Wang +7 more
doaj +2 more sources
Leigh's disease involving multiple organs [PDF]
Journal of Korean Medical Science, 1993 Leigh's disease is a rare progressive neurological disorder that is characterized light microscopically by focal spongy necrosis in the brain and electron microscopically by mitochondriopathy. We report an autopsy case of Leigh's disease that showed abnormalities in the liver, kidney and skeletal muscle as well as the central nervous system.
Kyeong Cheon Jung +5 more
openaire +2 more sources
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases [PDF]
, 2019 TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders.
Bugiardini, E +11 more
core +2 more sources
Leigh Syndrome Mimicking Wernicke’s Encephalopathy: A Case Report
대한영상의학회지, 2020 Leigh syndrome or subacute necrotizing encephalomyelopathy is a rare, rapidly progressive neurodegenerative disorder. In general, symptoms such as shortness of breath and decreased cardiac function usually occur within 1 year of life.
Jisoo Oh +3 more
doaj +1 more source
Frontiers in Pediatrics, 2022 Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems.
Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang
doaj +1 more source
Clinical Hypertension, 2023 Background Leigh syndrome is a progressive neurodegenerative mitochondrial disorder caused by multiple genetic etiologies with multisystemic involvement that mostly affecting the central nervous system with high rate of premature mortality.
Ana Solis +3 more
doaj +1 more source