TY - JOUR
T1 - Two new gene mutations for late onset mitochondrial neurogastrointestinal encephalopathy (mngie)
AU - Etienne, Gathline
AU - Shamseddine, Khadijah
AU - Pulley, Michael
AU - Milfred, Fatima
PY - 2012/12
Y1 - 2012/12
N2 - Mitochondrial 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.
AB - Mitochondrial 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.
KW - Deoxyuridine
KW - Human gene mutation database (HGMD)
KW - Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
KW - Nucleoside
KW - TYMP gene
KW - Thymidine
UR - http://www.scopus.com/inward/record.url?scp=84871403356&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84871403356&partnerID=8YFLogxK
U2 - 10.2478/s13380-012-0042-9
DO - 10.2478/s13380-012-0042-9
M3 - Article
AN - SCOPUS:84871403356
SN - 2081-3856
VL - 3
SP - 413
EP - 414
JO - Translational Neuroscience
JF - Translational Neuroscience
IS - 4
ER -