TWNK Gene Associated Perrault Syndrome Patient with Neurological Features
Journal of the Korean Neurological Association
;
: 137-140, 2023.
Artigo
em Coreano
| WPRIM
| ID: wpr-977060
ABSTRACT
Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity of neurologic deficits due to variants of twinkle mtDNA helicase (TWNK) gene. Since neurologic deficits develop gradually, patient is often misdiagnosed with other neurological disease during early age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.
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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