Results 141 to 150 of about 1,276 (185)

CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders [PDF]

Biochimica Et Biophysica Acta - General Subjects, 2012
Although causative mutations have been identified for numerous mitochondrial disorders, few disease-modifying treatments are available. Two examples of treatable mitochondrial disorders are coenzyme Q(10) (CoQ(10) or ubiquinone) deficiency and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Here, we describe clinical and molecular ...
Michio Hirano, Catarina Quinzii, Caterina Garone   +2 more
exaly   +4 more sources

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [PDF]

FEBS Letters, 2007
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease due to ECGF1 gene mutations causing thymidine phosphorylase (TP) deficiency. Analysis of post-mortem samples of five MNGIE patients and two controls, revealed
Maria Lucia Valentino, Michio Hirano, Luis Carlos Lopez   +2 more
exaly   +2 more sources

A second MNGIE patient without typical mitochondrial skeletal muscle involvement

Neurological Sciences, 2010
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TYMP). Clinically, MNGIE is characterized by gastrointestinal dysmotility, cachexia, ptosis,
Maria Teresa Dotti, Gian Nicola Gallus, Anna Rubegni   +2 more
exaly   +2 more sources

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Treating MNGIE

Neurology, 2006
Neurons, myocytes, and other highly oxidative cells are critically dependent upon the production of adenosine triphosphate by the mitochondrial respiratory chain. Although mitochondria contain multiple copies of their own genome (mtDNA), which codes for 13 essential respiratory chain proteins and 24 ribonucleic acids required for intra-mitochondrial ...
Patrick F. Chinnery, John Vissing
openaire   +1 more source

POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype

Clinical Neurology and Neurosurgery
Josef Finsterer
exaly   +3 more sources

Phenotypic variability in a Spanish family with MNGIE

Neurology, 2002
Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness.
J, Gamez, C, Ferreiro, M L, Accarino, L, Guarner, S, Tadesse, R A, Martí, A L, Andreu, N, Raguer, C, Cervera, M, Hirano   +9 more
openaire   +2 more sources

Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes

Clinical Neurology and Neurosurgery
[Abstract Not Available]
Biray Erturk, Ali Ihsan Dokucu, Mey Talip Petmezci   +2 more
exaly   +4 more sources

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Neuromuscular Disorders, 2009
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by severe gastrointestinal dysmotility, cachexia, peripheral neuropathy, ptosis, ophthalmoplegia, and leukoencephalopathy with early onset and ...
Roberto Massa, Filippo M Santorelli, Alessandra Tessa   +2 more
exaly   +2 more sources

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

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