title: A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.
authors.forename: Maria
authors.initials: M
authors.lastname: Liguori
authors.forename: Antonella
authors.initials: A
authors.lastname: La Russa
authors.forename: Ida
authors.initials: I
authors.lastname: Manna
authors.forename: Virginia
authors.initials: V
authors.lastname: Andreoli
authors.forename: Manuela
authors.initials: M
authors.lastname: Caracciolo
authors.forename: Patrizia
authors.initials: P
authors.lastname: Spadafora
authors.forename: Rita
authors.initials: R
authors.lastname: Cittadella
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004734:Energy Metabolism / Q000235:genetics; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018908:Muscle Weakness / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D020886:Somatosensory Disorders / Q000235:genetics; D013577:Syndrome
chemical_list: D005819:Genetic Markers; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human