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Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Archive ouverte | Charif, Majida | CCSD

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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

Archive ouverte | Charif, Majida | CCSD

International audience. Biallelic mutations in ACO2, encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal degeneration ...

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

Archive ouverte | Charif, Majida | CCSD

International audience. Abstract Biallelic mutations in ACO2, encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal dege...

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