Results 1 to 10 of about 1,521 (145)

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
openalex   +3 more sources

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

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
openalex   +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   +3 more sources

Diagnostic challenges in mitochondrial encephalomyopathy with m.10158T>C mutation: a case report and literature review [PDF]

Frontiers in Integrative Neuroscience
Mitochondrial encephalomyopathy is a complex disorder with heterogeneous clinical manifestations that often complicate its clinical diagnosis. We report the first documented case of a 52-year-old woman harboring a novel and rare genotypic combination ...
Zhuqing Luan, Zhigang Liang
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Correction: Late-onset mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes with chronic intestinal pseudo-obstruction: a case-based review [PDF]

Frontiers in Molecular Biosciences
Lin Zhang, Junjian Lin, Fengying Li, Yujie Jia, Junhua Li, Xiaopeng Wang   +5 more
openalex   +3 more sources

Mitochondrial encephalomyopathies [PDF]

Journal of Neuropathology & Experimental Neurology, 2003
Mitochondrial encephalomyopathies are diseases caused by defective oxidative phosphorylation (OXPHOS), and affect the nervous system and/or skeletal muscle. They have emerged as a major entity among the neurometabolic diseases of childhood with an incidence of 1 in 11,000 children, and also have a high prevalence in adults.
Anders, Oldfors, Már, Tulinius
openaire   +4 more sources

Comments on: Lamotrigine-induced Stevens-Johnson syndrome in the setting of mitochondrial encephalomyopathy: A case report

Therapeutic Advances in Neurological Disorders
Josef Finsterer
openalex   +2 more sources

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

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   +1 more source

Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy

BioMedica, 2021
Background and Objective:  Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia, Feng-Nan Niu, Biao Jin, Kang-ren Zhao Zhao, Rui Ma, Ming Yu   +5 more
doaj   +1 more source

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report

Journal of Medical Case Reports, 2022
Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome is a rare mitochondrial genetic disorder that can present with a variety of clinical manifestations, including stroke, hearing loss, seizures, and lactic ...
Ahmad F. Alenezi, Mariam A. Almelahi, Feten Fekih-Romdhana, Haitham A. Jahrami   +3 more
doaj   +1 more source