Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

International audience

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

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OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

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A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

International audience