From Genotype to Phenotype in Leber Hereditary Optic Neuropathy: Still More Questions than Answers
- 1 December 2002
- journal article
- research article
- Published by Wolters Kluwer Health in Journal of Neuro-Ophthalmology
- Vol. 22 (4) , 257-261
- https://doi.org/10.1097/00041327-200212000-00001
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Lightning Strikes Twice: Leber Hereditary Optic Neuropathy Families with Two Pathogenic mtDNA MutationsJournal of Neuro-Ophthalmology, 2002
- Leber hereditary optic neuropathyJournal of Medical Genetics, 2002
- The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup JHuman Genetics, 2002
- Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutationsAmerican Journal of Medical Genetics, 2001
- Leber hereditary optic neuropathy: clinical and molecular genetic findingsneurogenetics, 2001
- Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?American Journal of Medical Genetics, 2001
- The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathyBrain, 2001
- mtDNA Mutations That Cause Optic Neuropathy: How Do We Know?American Journal of Human Genetics, 1998
- The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutationBrain, 1995
- Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic NeuropathyScience, 1988