Results 151 to 160 of about 1,276 (185)

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, Michio Hirano, Antonella Spinazzola   +2 more
exaly   +3 more sources

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE)

Practical Neurology, 2020
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive condition. Deficiency of thymidine phosphorylase disrupts the nucleoside pool, with progressive secondary mitochondrial DNA damage. MNGIE is clinically diagnosable because of a distinctive tetrad of gastrointestinal dysmotility, progressive external ophthalmoplegia,
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).
Montse Olive, Antonio Luis Andreu, Michio Hirano   +2 more
exaly   +3 more sources

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

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

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

Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE)

2019
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disease due to mutations in TYMP, which encodes the cytosolic enzyme thymidine phosphorylase (TP). MNGIE is clinically characterized by severe gastrointestinal dysmotility, cachexia, chronic progressive external ophthalmoplegia, sensorimotor peripheral
Shufang Li, Ramon Martí, Michio Hirano
openaire   +1 more source

[MNGIE syndrome in 2 siblings].

Revue neurologique, 1998
Two siblings (one man, one woman), presenting with diarrhea, severe weight loss peripheral neuropathy, ophthalmoparesis, asymptomatic leukoencephalopathy were diagnosed as a new cases of Mitochondrial Neuro Gastro Intestinal Encephalomyopathy syndrome (MNGIE).
M, Debouverie, M, Wagner, X, Ducrocq, Y, Grignon, B, Mousson, M, Weber   +5 more
openaire   +1 more source

A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

Clinical Neurology and Neurosurgery, 2023
Biray Erturk, Ali Ihsan Dokucu, Mey Talip Petmezci   +2 more
exaly  

Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)

2021
null Christopher V. Nguyen, MD, null Jay Acharya, MD, null Edward Kuoy, MD, null Hien Tran   +3 more
openaire   +1 more source