Results 71 to 80 of about 376,481 (188)

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. [PDF]

, 2013
Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochondrial
Konstantopoulou, Vassiliki, Johnson, Mark A, Srinivasan, Satish, Furlan, Francesca, Alkuraya, Fowzan S, Robinson, Alan J, Salih, Mustafa A, Ghezzi, Daniele, Meitinger, Thomas, Sheldon, Claire A, Al-Jishi, Emtethal, Strom, Tim M, Zeviani, Massimo, Sondheimer, Neal, Ostrovsky, Julian, Wong, Lee-Jun, Bean, Charles, Reyes, Aurelio, Lamperti, Costanza, Freisinger, Peter, Polyak, Erzsebet, Wieland, Thomas, Kremer, Laura S, Vidoni, Sara, Falk, Marni J, Gai, Xiaowu, Consugar, Mark, Raab, Christopher P., MD, MS, Parini, Rossella, Sperl, Wolfgang, Tsukikawa, Mai, Mayr, Johannes A, Huemer, Martina, Gorza, Matteo, Biagosch, Caroline A, Pierce, Eric A, Haack, Tobias B, Prokisch, Holger, Shamseldin, Hanan E, Place, Emily   +39 more
core   +2 more sources

Mitochondrial disease in adults: what's old and what's new?

EMBO Molecular Medicine, 2015
Ten years ago, there was an emerging view that the molecular basis for adult mitochondrial disorders was largely known and that the clinical phenotypes had been well described. Nothing could have been further from the truth.
Patrick F Chinnery
doaj   +1 more source

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

Case Reports in Cardiology, 2016
A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position
Sara Seitun, Laura Massobrio, Anna Rubegni, Claudia Nesti, Margherita Castiglione Morelli, Sara Boccalini, Athena Galletto Pregliasco, Irilda Budaj, Luca Deferrari, Gian Marco Rosa, Fabrizio Montecucco, Alberto Valbusa   +11 more
doaj   +1 more source

Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To study histological features, immunophenotype, genotype, diagnosis and differential diagnosis, treatment and prognosis of one case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS), and to summarize the ...
Xiao-ling YAN, Xue-bin ZHANG, Shu-mei JIN, Fan TANG, Zhu-yu HAN   +4 more
doaj   +1 more source

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families [PDF]

, 2010
Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome.
Mazhor Al-Dosary, Worgan, L, Jones, S, Robert W. Taylor, Lisa Worgan, Saretzki, G, Mansour, S, Sahar Mansour, Michael Clarke, David R. Thorburn, Robert McFarland, Thorburn, DR, Vanessa E. Hogan, Emma L. Blakely, Al-Dosary, M, Simon Jones, Hogan, VE, Devlin, AM, Langping He, Tuppen, HAL, Gabriele Saretzki, Alston, CL, Blakely, EL, Morris, AA, Charlotte L. Alston, Taylor, RW, Tuppen, HA, Chrzanowska-Lightowlers, ZMA, Zofia M. A. Chrzanowska-Lightowlers, Andrew A. Morris, Chrzanowska-Lightowlers, ZM, Clarke, M, Anita M. Devlin, Helen A. L. Tuppen, He, L, McFarland, R   +35 more
core   +1 more source

Generation of a patient-derived iPSC line from a clinically diagnosed MELAS case carrying the mtDNA m.3243A > G variant

Stem Cell Research
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) represents a multisystemic mitochondrial disease mainly triggered by heteroplasmic m.3243A > G mutation in mtDNA MT-TL1, the gene for tRNA^Leu(UUR).
Gautam Sharma, Abhay Srivastava, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +3 more
doaj   +1 more source

Diagnostic approach to mitochondrial encephalomyopathy in pediatrics

, 2002
A diagnostic approach to mitochondrial encephalomyopathy observed in pediatrics is herein ...
Rigante D.
core  

Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21

Balkan Journal of Medical Genetics
Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy.
Paripović A, Maver A, Stajić N, Putnik J, Ostojić S, Alimpić B, Ilić N, Sarajlija A   +7 more
doaj   +1 more source

iPSC generation from PBMCs of a MELAS patient for mitochondrial dysfunction studies

Stem Cell Research
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a multisystemic mitochondrial disorder primarily caused by a heteroplasmic point mutation at mitochondrial DNA (mtDNA) position 3243 (m.3243A > G) in the MT-TL1 gene ...
Gautam Sharma, Abhay Srivastava, Cheryl Rockman-Greenberg, Sanjiv Dhingra   +3 more
doaj   +1 more source

Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses

Case Reports in Cardiology, 2017
We report a case with 46-year-old man diagnosed with mitochondrial cardiomyopathy in the dilated phase of hypertrophic cardiomyopathy. Since cardiac magnetic resonance imaging, beta-methyl-p-I123-iodophenyl-pentadecanoic myocardial scintigraphy, and ...
Toshiki Kuno, Syohei Imaeda, Yohei Asakawa, Hiroshi Nakamura, Genzou Takemura, Daisuke Asahara, Akira Kanamori, Tomoyuki Kabutoya, Yohei Numasawa   +8 more
doaj   +1 more source