A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family

International audience

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

International audience

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

International audience

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

International audience

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

International audience

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

International audience