title: Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.
authors.forename: P
authors.initials: P
authors.lastname: Amati-Bonneau
authors.forename: L
authors.initials: L
authors.lastname: Pasquier
authors.forename: E
authors.initials: E
authors.lastname: Lainey
authors.forename: M
authors.initials: M
authors.lastname: Ferré
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: Y
authors.initials: Y
authors.lastname: Malthièry
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: P
authors.initials: P
authors.lastname: Reynier
mesh_terms: D000328:Adult; D003062:Codon / Q000235:genetics; D005091:Exons; D016368:Frameshift Mutation; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008297:Male; D029241:Optic Atrophy, Autosomal Dominant / Q000209:etiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012326:RNA Splicing
chemical_list: D003062:Codon; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human