Two new gene mutations for late onset mitochondrial neurogastrointestinal encephalopathy (MNGIE)

Walter de Gruyter GmbH - Tập 3 Số 4 - 2012
Gathline Etienne1, Khadijah Shamseddine1, Michael Pulley1, Fatima Milfred1
1Department of Neurology, University of Florida College of Medicine-Jacksonvill, Florida, USA

Tóm tắt

AbstractMitochondrial neurogastrointestinal encephalopathy (MNGIE) is a multisystem, autosomal recessive disorder characterized by ptosis, progressive external ophthalmoplegia, gastroparesis cachexia, peripheral neuropathy, and diffuse leukoencephalopathy. MNGIE is rare and the prevalence is unknown, however, to date there have been 76 mutations reported in the TYMP gene associated with MNGIE. We report two novel mutations that have not been previously described in a patient with clinical MNGIE syndrome.

Từ khóa


Tài liệu tham khảo

Hirano, M., Lagier-Tourenne, C., Valentino, M. L., Marti, R., Nishigaki, Y., Thymidine phosphorylase mutations cause instability of mitochondrial DNA, Gene, 354, 152–156, 2005

Garone C., Tadesse S., Hirano M., Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy, Brain, 2011, 134, 3326–3332

http://www.hgmd.org/

Gamez J., Ferreiro C., Accarino M.L., Guarner L.M., Tadesse S., Marti R.A., et al., Phenotypic variability in a Spanish family with MNGIE, Neurology, 2002, 13,59, 455–457

Marti R., Verschuuren J.J.G.M., Buchman A., Hirano I., Tadesse S., van Kuilenburg A.B.P., et al., Late-onset MNGIE due to partial loss of thymidine phosphorylase activity, Ann. Neurol., 58, 649–652, 2005

Nishino I., Spinazzola A., Hirano M., Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder, Science, 283, 689–692, 1999

Patrick F.C., John V., Treating MNGIE: is reducing blood nucleosides the first cure for a mitochondrial disorder?, Neurology, 2006, 67, 1330–1332

Thông tin
Thông tin xuất bản

Walter de Gruyter GmbH

Tập 3 Số 4

Thông tin tác giả