A Familial Case Presented with Various Clinical Manifestations Caused by OPA1 Mutation
Journal of the Korean Neurological Association
;
: 60-63, 2023.
Artigo
em Coreano
| WPRIM
| ID: wpr-967810
ABSTRACT
Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia is suspected when typical symptom of ataxia with concurrent is identified, it is sometimes difficult to diagnose hereditary ataxia without genetic test. Clinically, next generation sequencing technology has been developed and widely used for diagnosis of hereditary disease. Hereby, we experienced cases of genetically confirmed OPA1 mutation, which are presented with various clinical manifestations including ataxic gait and decreased visual acuity.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2023
Tipo de documento:
Artigo
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