A Familial Case Presented with Various Clinical Manifestations Caused by <i>OPA1</i> Mutation
نویسندگان
چکیده
Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia suspected when typical symptom of with concurrent identified, it sometimes difficult to diagnose without test. Clinically, next generation sequencing technology has been developed widely used for diagnosis disease. Hereby, we experienced cases genetically confirmed <i>OPA1</i> mutation, which are clinical manifestations ataxic gait decreased visual acuity.
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ژورنال
عنوان ژورنال: Journal of the Korean neurological association
سال: 2023
ISSN: ['1225-7044', '2288-985X']
DOI: https://doi.org/10.17340/jkna.2023.1.11