Results 131 to 140 of about 1,586 (183)

MNGIE: from nuclear DNA to mitochondrial DNA

Neuromuscular Disorders, 2001
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a unique autosomal recessive disorder with mitochondrial DNA alterations. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy.
Ichizo Nishino, Antonella Spinazzola, Michio Hirano   +2 more
exaly   +3 more sources

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous POLG Variants: Case Presentation and Review of the Literature

Pediatric and Developmental Pathology
We report a teenage patient with a delayed diagnosis of compound heterozygous POLG pathogenic variants [(POLG c. 1943 C>G, p.P648R) and (POLG c. 679 C>T, p.R227W)] who presented with fatigue and neuropathy, as well as long standing malnutrition and ...
Laura S. Finn, A. Goldstein, H. Hedrick
semanticscholar   +1 more source

Multiple mtDNA deletions with features of MNGIE

Neurology, 2002
Two sisters developed gastrointestinal malabsorption with pain and unsteady gait due to polyneuropathy at age 15. Both had ophthalmoplegia, neurogenic EMG, and COX-negative muscle fibers. One patient had low muscle complex I-IV activity, multiple mtDNA deletions, and depletion, but no thymidine phosphorylase (TP) or dNT-2 gene mutations.
Vissing, J., Ravn, K., Danielsen, E.R., Duno, M., Wibrand, F., Wevers, R.A., Schwartz, M.   +6 more
openaire   +3 more sources

A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations

International Journal of Developmental Neuroscience, 2022
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE; OMIM 603041) is a rare inherited metabolic disorder mostly caused by mutations in TYMP gene encoding thymidine phosphorylase (TP) protein that affects the mitochondrial nucleotide metabolism ...
Marwa Ammar, W. Safi, A. Tlili, Olfa Alila-Fersi, Fakher Frikha, J. Chouchen, F. Mnif, Marwa Kharrat, M. Maalej, R. Felhi, M. Abid, M. Mnif-Feki, F. Kacem, F. Fakhfakh, E. Mkaouar-Rebai   +14 more
semanticscholar   +1 more source

Successful cochlear implantation in a patient with MNGIE syndrome

Acta Oto-Laryngologica, 2011
Abstract A 28-year-old woman with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE syndrome) undergoing evaluation for multichannel cochlear implantation is described. The case history, diagnosis of mitochondrial disease, and assessment of the benefits of cochlear implantation are documented.
Jia-Nan, Li, Dong-Yi, Han, Fei, Ji, Ai-Ting, Chen, Nan, Wu, Xin, Xi, Wei-Dong, Shen, Shi-Ming, Yang   +7 more
openaire   +2 more sources

MuSK not MNGIE: Atypical MuSK-antibody myasthenia presenting as a genetic disorder.

Neuromuscular Disorders, 2021
Myasthenia gravis is a treatable autoimmune disease caused by autoantibodies directed against membrane proteins at the neuromuscular junction. While acetylcholine receptor antibodies are most common, a minority of patients have antibodies directed ...
S. Thebault, E. Gibbs, P. Bourque, D. McKim, K. Rakhra, A. Breiner, Hans Frykman, J. Warman‐Chardon   +7 more
semanticscholar   +1 more source

Paralytic ileus in MELAS with phenotypic features of MNGIE

Pediatric Neurology, 2004
This report describes a child having the syndrome of overlapping phenotypic features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Mitochondrial DNA analysis revealed a point mutation at position A3243G, whereas activity of thymidine ...
Tung-Ming, Chang, Ching-Shiang, Chi, Chi-Ren, Tsai, Hsiu-Fen, Lee, Mu-Chun, Li   +4 more
openaire   +2 more sources

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes

The Neurologist, 2004
Mitochondrial encephalomyopathies are clinically and genetically heterogeneous because mitochondria are the products of 2 genomes: mitochondrial DNA (mtDNA) and nuclear DNA (nDNA). Among the mendelian-inherited mitochondrial diseases are defects of intergenomic communication, disorders due to nDNA mutations that cause depletion and multiple deletions ...
Michio, Hirano, Yutaka, Nishigaki, Ramon, Martí   +2 more
openaire   +2 more sources

A novel thymidine phosphorylase mutation in a Chinese MNGIE patient

Acta Neurologica Belgica, 2016
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with mitochondrial alterations. MNGIE is characterized by severe gastrointestinal dysmotility, cachexia, ophthalmoplegia, ptosis, peripheral neuropathy, and leukoencephalopathy. The condition is caused by mutation of the TYMP gene. We studied the
Hui-Fang, Wang, Juan, Wang, Yan-Ling, Wang, Jian-Jian, Fan, Gui-Lin, Mo, Feng-Yin, Gong, Zhi-Ming, Chai, Jin, Zhang, Hua-Xing, Meng, Chang-Xin, Li, Jun-Hong, Guo, Chuan-Qiang, Pu   +11 more
openaire   +2 more sources

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient

Journal of the Neurological Sciences, 2005
A 29-year-old Spanish man presented with chronic intestinal pseudo-obstruction, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy. This combination of clinical features is characteristic of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Fermín Mearin, Núria Raguer, Montse Olive   +2 more
exaly   +3 more sources