Article
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
JAMA neurology - 1 Jun 2013
Arif Beenish, Kumar Kishore R, Seibler Philip, Vulinovic Franca, Fatima Amara, Winkler Susen, Nürnberg Gudrun, Thiele Holger, Nürnberg Peter, Jamil Ahmad Zeeshan, Brüggemann Anne, Abbas Ghazanfar, Klein Christine, Naz Sadaf, Lohmann Katja
Abstract excerpt
IMPORTANCE: We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype. OBSERVATIONS: Neurological and ophthalmological examination, including videotaping and fundoscopy, and genetic investigations, including homozygosity mapping and exome se...
Topics
- Adolescent
- Child
- Chorea
- Dystonia
- Exome
- Female
- Genome-Wide Association Study
- Humans
- Male
- Metabolism, Inborn Errors
- Mutation, Missense
- Nervous System Diseases
- Optic Atrophy
- Pedigree