Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy
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| Description | scientific article published on 28 October 2014 |
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author: Isabelle Desguerre Agnès Rötig Patrizia Amati-Bonneau Jeanne Amiel Jean-michel Rozet Josseline Kaplan Anna Kaminska Agnès Delahodde Xavier Gérard Arnold Munnich Dominique Chrétien Nathalie Boddaert Sylvie Gerber Claude Besmond Metodi D Metodiev |
| Publication date | October 28, 2014 |
| Language | English |
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