ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia-Reference-Cited by-同舟云学术

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

Published:2018-03-20 Issue:2 Volume:4 Page:e225
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Marelli Cecilia,Hamel Christian,Quiles Melanie,Carlander Bertrand,Larrieu Lise,Delettre Cecile,Sarzi Emmanuelle,Chretien Dominique,Rustin Pierre,Koenig Michel,Guissart Claire

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Reference8 articles.

1. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

2. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

3. Increased survival and partly preserved cognition in a patient with ACO2-related disease secondary to a novel variant;Srivastava;J Child Neurol,2017

4. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency;Sadat;Mol Genet Metab,2016

5. Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples

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