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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A. Munnich | N. Boddaert | A. Rötig | P. Amati‐Bonneau | A. Kaminska | I. Desguerre | J. Amiel | M. Rio | S. Gerber | J. Kaplan | J. Rozet | D. Chrétien | X. Gérard | A. Delahodde | C. Besmond | L. Hubert | Metodi D. Metodiev | Marie-Christine Giacomotto