| Identifier |
walsh_2004_s1_c5 |
| Title |
NANOS at the Walsh |
| Creator |
Hall, Deborah A. |
| Subject |
Ataxia; Diplopia; Ophthalmoplegia; Polyneuropathies; Mitochondrial Myopathies; Point Mutation; Exotropia |
| History |
A 31-year old female with diplopia bilateral ptosis. |
| Pathology |
T8993C point mutation in the ATPase 6 gene |
| Disease/Diagnosis |
Mitochondrial disease (T8993C mutation) |
| Clinical |
Normal visual acuity and color vision; Exotropia in left gaze |
| Presenting Symptom |
Diplopia; Ptosis |
| Neuroimaging |
MRI |
| Treatment |
N/A |
| Date |
2004 |
| References |
1. Santorelli FM, Mak S, Vazques-Memije ME, et al. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. Pediatr Res 1996;39:914-917. 2. Vries DD, van Engelen BG, Gabreels FJ, et al. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh syndrome. Ann Neurol 1993;34:410-412. 3. Geromel V, Kadhom N, Cebalo-Picot I, et al. Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA. Human Mol Genet 2001;10:1221-1228. 4. Nijtmans LGJ, Henderson NS, Attardi G, et al. Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene. J Biol Chem 2001;276:6755-6762. 5. Uziel G, Moroni I, Lamantea E, et al. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychr 1997;63:16-22. 6. Fujii T, Hattori H, Higuchi Y, et al. Phenotypic differences between T to C and T to G mutations at nt T8893 of mitochondrial DNA in Leigh syndrome. Pediatr Neurol 1998;18:275-277. 7. Simon DK and Johns DR. Mitochondrial disorders: clinical and genetic features. Annu Rev Med 1999;50:111-27. |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
30th Annual North American Neuro-Ophthalmology Society Meeting, Frank B. Walsh Session CD-ROM |
| Relation is Part of |
Case 5, Session I, Walsh Session, NANOS 2004 |
| 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 2008. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6kk9fgq |
| Contributor Primary |
Hall, Deborah A. |
| Setname |
ehsl_novel_fbw |
| ID |
177582 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6kk9fgq |
