A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.
Liguori
Maria
M
La Russa
Antonella
A
Manna
Ida
I
Andreoli
Virginia
V
Caracciolo
Manuela
M
Spadafora
Patrizia
P
Cittadella
Rita
R
Quattrone
Aldo
A
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
D005819:Genetic Markers; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human