| Identifier |
19920225_nanos_clinicalpres2_01 |
| Title |
The MNGIE Syndrome: DNA Analysis and Histopatholigical Characterization |
| Creator |
Threlkeld, Anisa B; Miller, Neil R; Golnik, Karl C; Griffin, John W; Kuncl, Ralph; Johns, Donald; Hurko, Orest |
| Subject |
Myo-Neuro-Gastrointestinal Encephalopathy; Multisystem Mitochondriopathy; Ptosis; Ophthalmoparesis; Myopathy; Polyneuropathy; Leukoencephalopathy |
| Description |
The myo-neuro-gastrointestinal encephalopathy (MNGIE) syndrome is a recently described multisystem mitochondriopathy with prominent ophthalmologic involvement characterized by ptosis and ophthalmoparesis (1). Systemic associations, including myopathy, polyneuropathy, leukoencephalopathy and severe pseudo-obstruction are also present. We describe the ophthalmologic features of the MNGIE syndrome and define the histopathological, biochemical and DNA analysis findings with special attention to its novel mitochondrial profile. |
| Language |
eng |
| Format |
application/pdf |
| Format Creation |
application/pdf |
| Type |
Text |
| Source |
1992 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 1992: Clinical Presentations (Session 2) |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 1992. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6hf12bb |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Wirtschafter, Jonathan D |
| Setname |
ehsl_novel_nam |
| ID |
182974 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6hf12bb |
