Results 1 to 10 of about 371,748 (188)

Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review [PDF]

Diagnostics, 2021
Mitochondrial encephalomyopathies (MEMP) are heterogeneous multisystem disorders frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation varies considerably in age of onset, course, and severity up to death in early ...
Phepy G. A. Dawod, Jasna Jancic, Ana Marjanovic, Marija Brankovic, Milena Jankovic, Janko Samardzic, Ayman Gamil Anwar Dawod, Ivana Novakovic, Fayda I. Abdel Motaleb, Vladimir Radlovic, Vladimir S. Kostic, Dejan Nikolic   +11 more
doaj   +3 more sources

Mitochondrial Encephalomyopathies: Incidence & DNA

Pediatric Neurology Briefs, 2001
The incidence, mortality, clinical features and DNA abnormalities of mitochondrial encephalomyopathies (ME) were evaluated in a population-based study of children from western Sweden conducted at The Queen Silvia Children’s Hospital, Goteborg, Sweden.
J Gordon Millichap
exaly   +4 more sources

Analysis of Mitochondrial DNA Sequences in Childhood Encephalomyopathies Reveals New Disease-Associated Variants [PDF]

PLoS ONE, 2007
BACKGROUND: Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused due to mutations in either mitochondrial DNA (mtDNA) or nuclear genes encoding oxidative phosphorylation (OXPHOS).
Yogesh S Shouche, Sharmila Bapat, Ashraf Rangrez   +2 more
exaly   +3 more sources

Mitochondrial Chronic Progressive External Ophthalmoplegia [PDF]

Brain Sciences
Background: Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis ...
Ali Ali, Ali Esmaeil, Raed Behbehani
doaj   +3 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

Neuronal intranuclear inclusion disease with recurrent encephalitis [PDF]

BMC Neurology
Background Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder characterized by eosinophilic intranuclear inclusions in neurons and multiple visceral organs, leading to heterogeneous clinical manifestations.
Chenchen Li, Chongbo Zhao, Chao Quan, Jingzi ZhangBao, Yue Zhang, Juncang Wu, Chi Zhang, Xiang Li   +7 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

Structural basis for late maturation steps of mitochondrial respiratory chain complex IV within the human respirasome [PDF]

Nature Communications
The mitochondrial respiratory chain comprises four multimeric complexes (CI-CIV) that drive oxidative phosphorylation by transferring electrons to oxygen and generating the proton gradient required for ATP synthesis.
Minh Duc Nguyen, Ana Sierra-Magro, Vivek Singh, Anas Khawaja, Alba Timón-Gómez, Antoni Barrientos, Joanna Rorbach   +6 more
doaj   +2 more sources

Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes [PDF]

Annals of Child Neurology, 2021
Purpose Magnetic resonance spectroscopy (MRS) is a diagnostic tool used to detect abnormal accumulation of lactate in the brain parenchyma in various metabolic diseases.
Hyunjoo Lee, Je Hee Shin, Ji-Hoon Na, Young-Mock Lee   +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