A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

• Main Authors: Jutatip Kintarak, Teerin Liewluck, Tumtip Sangruchi, Michio Hirano, Kongkiat Kulkantrakorn, Sombat Muengtaweepongsa
• Other Authors: Faculty of Medicine, Thammasat University
• Format: Article
• Published: 2018
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/24773
• Institution: Mahidol University

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive, multisystem disorder, which is clinically defined by ptosis, ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by mutations in the nucl...