Results 1 to 10 of about 376,481 (188)

Lamotrigine-induced Stevens-Johnson syndrome in the setting of mitochondrial encephalomyopathy: A case report [PDF]

Therapeutic Advances in Neurological Disorders
A 67-year-old male with Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS) who developed life-threatening Stevens-Johnson Syndrome (SJS) more than one month after initiating lamotrigine (LTG) for epilepsy management ...
Ye Tian, Teng Chen, Jingwen Liu, Juan Wang, Lihong Zhang   +4 more
doaj   +3 more sources

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene [PDF]

Frontiers in Genetics
BackgroundMitochondria adjust their shape in response to the different energetic and metabolic requirements of the cell, through extremely dynamic fusion and fission events.
Michela Di Nottia, Michela Di Nottia, Teresa Rizza, Enrico Baruffini, Claudia Nesti, Alessandra Torraco, Daria Diodato, Diego Martinelli, Flavio Dal Canto, Alexandru Ionut Gilea, Martina Zoccola, Martina Zoccola, Barbara Siri, Carlo Dionisi-Vici, Enrico Bertini, Filippo Maria Santorelli, Paola Goffrini, Rosalba Carrozzo   +17 more
doaj   +4 more sources

Mitochondrial encephalomyopathy caused by a novel ACAD9 mutation: a case report [PDF]

Frontiers in Human Neuroscience
Background A 27-year-old male with perinatal hypoxia presented with global developmental delay, progressive hearing loss, ataxia, dysarthria, and intellectual disability.
Shuo Li, Yijun Li, Yonghua Chen
doaj   +2 more sources

Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes [PDF]

Life, 2021
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity.
Hueng-Chuen Fan, Hsiu-Fen Lee, Chen-Tang Yue, Ching-Shiang Chi   +3 more
doaj   +2 more sources

Subacute‐onset cataract in a 29‐year‐old man with mitochondrial encephalomyopathy: A case report [PDF]

Clinical Case Reports
Key Clinical Message This case report aims to emphasize that subacute occurrence of nuclear cataract might be one of the underestimated manifestations of mitochondrial encephalomyopathy, thus periodical ophthalmologic examinations are recommended.
Lu Chen, Yueyang Zhong, Jingjie Xu, Qiuli Fu, Ke Yao   +4 more
doaj   +2 more sources

Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant [PDF]

Molecular and Cellular Pediatrics
Background AIFM1 encodes the X-linked oxidoreductase ‘apoptosis-inducing factor 1, mitochondrial’ that mediates caspase-independent programmed cell death and is involved in redox metabolism. To date, cardiac involvement has been reported in four patients
Christoph Sandmann, Swathi Gudapati, Johannes A. Mayr, Rami Abou Jamra, Alexander Kovacevic, Steffen Syrbe   +5 more
doaj   +2 more sources

TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy [PDF]

Orphanet Journal of Rare Diseases
Biallelic pathogenic variants in TARS2 lead to combined oxidative phosphorylation deficiency, subtype 21 (COXPD21, MIM #615918), which is a rare mitochondrial encephalomyopathy (ME) characterized by early-onset severe axial hypotonia, limb hypertonia ...
Shujie Zhang, Haisong Qin, Qingming Wang, Yingfei Wang, Yanhui Liu, Qi Yang, Jingsi Luo, Zailong Qin, Xiang Ji, Lijuan Kan, Guoxing Geng, Jing Huang, Shengkai Wei, Qiuli Chen, Yiping Shen, Haiming Yuan, Baoling Lai   +16 more
doaj   +2 more sources

Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling [PDF]

Brain and Behavior
Introduction/Aims Mitochondrial encephalomyopathies are multisystem disorders caused by defects in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) syndrome is a rare manifestation ...
Fanjing Zhou, Jiang Chen, Tingzheng Zhang, Fengnan Niu, Jinglong Hu, Yun Xu, Meijuan Zhang   +6 more
doaj   +2 more sources

Modeling mitochondrial encephalomyopathy in Drosophila [PDF]

Neurobiology of Disease, 2010
Mitochondrial encephalomyopathies are disturbingly complex and devastating diseases, reflecting the underlying importance of the affected organelle.
Michael J. Palladino
doaj   +3 more sources

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report [PDF]

Journal of Medical Case Reports
Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes and nemaline myopathy are two rare genetic conditions. We report the first case reported in world literature with coexistence of both these rare disorders.
Kawmadi Gunawardena, Somasundaram Praveenan, Vajira H. W. Dissanayake, Pyara Ratnayake   +3 more
doaj   +2 more sources