Results 171 to 180 of about 2,461,819 (231)

Clinical case of MELAS syndrom

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2022
Clinical case of mitochondrial encephalomyopathy manifested with lactic acidosis and stroke-like episodes was presented. The patient diagnosis was performed in childhood, based on clinical manifestation, and was confirmed with molecular genetic test (mutation m.3243A>G in gene MT-TL1 was revealed). Appropriate patient management required united efforts
V.V. Goldobin, E.G. Klocheva, M.Yu. Afanasyeva, N.M. Tertyshnaya   +3 more
openaire   +2 more sources

Mitochondrial dysfunction characterized in human induced pluripotent stem cell disease models in MELAS syndrome: A brief summary.

Mitochondrion (Amsterdam. Print), 2023
Human induced pluripotent stem cells (hiPSCs) for MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) may allow deeper understanding of how tissue-specific mitochondrial dysfunction result in multi-systemic ...
Kumarie Latchman, Mario Saporta, C. Moraes   +2 more
semanticscholar   +1 more source

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

Molecular Genetics and Metabolism, 2015
Ayman W El-Hattab, A. Adesina, Jeremy Jones, F. Scaglia   +3 more
semanticscholar   +3 more sources

Melas syndrome

The Indian Journal of Pediatrics, 1999
An 11 year old male presented with headache, vomiting and weakness of right side of body. One day after admission he developed right focal seizures. He had 5 previous episodes of stroke, the first at 11 months age. His milestones were normal upto the first episode but subsequent mile stones were delayed.
S K, Singh, D, Sarin, J M, Puliyel, R, Srivastav, R, Gupta, N, Kumar, A, Mathews   +6 more
openaire   +2 more sources

independent origin for M.3243A>G mitochondrial mutation in three venezuelan cases of melas syndrome.

Clinical Biochemistry, 2022
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80% of cases have the mutation m ...
I. Florez, Irune Pirrone, L. Casique, Carmen Luisa Domínguez, A. Mahfoud, T. Rodríguez, Daniel Rodríguez, M. De Lucca, José Luis Ramírez   +8 more
semanticscholar   +1 more source

Acute myocardial infarction in a patient with MELAS syndrome: a possible link?

Minerva cardiology and angiology, 2022
INTRODUCTION The mitochondrial encephalomyopathy, lactic acidosis, and stroke (MELAS) syndrome is a mitochondrial disorder, commonly caused by m.3243A > G mutation in the MT-TL1 gene. It encodes for the mitochondrial leucine transfer RNA (tRNA Leu(UUR)),
Joseph Cosma, A. Russo, Sofia Schino, Martina Belli, R. Mango, Gaetano Chiricolo, E. Martuscelli, E. Mariano   +7 more
semanticscholar   +1 more source

Mitochondrial tRNAHis mutation (m.12158A > G) associated with MELAS syndrome

Clinical Genetics, 2022
Dear Editor, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS, MIM 540000) is a genetically heterogeneous multisystem disorder. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures,
Hyunjoo Lee, Ji-Hoon Na, Young-Mock Lee
semanticscholar   +1 more source

Syndrome MELAS atypique

Pratique Neurologique - FMC, 2012
Resume Une patiente de 63 ans qui presentait depuis une quinzaine d’annees un diabete non insulinodependant et une surdite de perception, developpa des troubles de l’equilibre et du comportement. L’IRM cerebrale montra des calcifications bilaterales des noyaux gris ainsi que la presence de multiples hypersignaux de la substance blanche ...
M.-C. Fleury, B. Lannes, A. Echaniz Laguna, B. Mousson de Camaret, C. Tranchant   +4 more
openaire   +1 more source

A novel nonsense variant in MT-CO3 causes MELAS syndrome.

Neuromuscular Disorders, 2021
Both mitochondrial and nuclear gene mutations can cause cytochrome c oxidase (COX, complex Ⅳ) dysfunction, leading to mitochondrial diseases. Although numerous diseases caused by defects of the COX subunits or COX assembly factors have been documented ...
Wei Wang, Yuan Sun, Yan Lin, Xuebi Xu, Dandan Zhao, K. Ji, Wei Li, Yuying Zhao, C. Yan   +8 more
semanticscholar   +1 more source

Ophthalmologic Manifestations in MELAS Syndrome

Archives of Neurology, 1993
We describe a 15-year-old boy with full-blown mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and chronic progressive external ophthalmoplegia (CPEO). He presented with visual disturbance, hearing impairment, continuous partial epilepsy on the right aspect of the face, and right hemiparesis since the age of 13.
W, Fang, C C, Huang, C C, Lee, S Y, Cheng, C Y, Pang, Y H, Wei   +5 more
openaire   +2 more sources