Associated Papers
Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
Seo Y et al.
American Journal of Medical Genetics. Part A, 2023
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M et al.
Neurology. Genetics, 2020
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