OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Abstract Background The dysfunction of OPA1, a dynamin GTPase involved in mitochondrial fusion, is responsible for a large spectrum of neurological disorders, each of which includes optic neuropathy. The database dedicated to OPA1 ( https://www.lovd.nl/OPA1 ), created in 2005, has now evolved toward...

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Bibliographic Details
Main Authors: Bastien Le Roux, Guy Lenaers, Xavier Zanlonghi, Patrizia Amati-Bonneau, Floris Chabrun, Thomas Foulonneau, Angélique Caignard, Stéphanie Leruez, Philippe Gohier, Vincent Procaccio, Dan Milea, Johan T. den Dunnen, Pascal Reynier, Marc Ferré
Format: Article
Language:English
Published: BMC 2019-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
OPA1
Dominant optic atrophy
Neurological disorders
Database
Sequence variant
Interoperability
Online Access:http://link.springer.com/article/10.1186/s13023-019-1187-1

Internet

http://link.springer.com/article/10.1186/s13023-019-1187-1

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