The First Genetically Confirmed McLeod Syndrome in Korea
Journal of the Korean Neurological Association
;
: 85-88, 2017.
Artículo
en Coreano
| WPRIM
| ID: wpr-47049
ABSTRACT
McLeod syndrome is a rare X-linked multisystem disorder which forms the core of neuroacanthocytosis syndrome. Neurological symptoms characterized by chorea, seizure, cognitive impairment, and psychosis mostly develop around the 5-6th decades, accompanied by multisystem involvement comprising neuropathy, myopathy, acanthocytosis and hepatosplenomegaly. We hereby present a 60-year-old male who is the first genetically confirmed Korean McLeod syndrome patient. Genetic analysis of his XK gene revealed a previously reported 5 base pair deletion of exon 3 (c.856_860delCTCTA).
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Abetalipoproteinemia
/
Trastornos Psicóticos
/
Convulsiones
/
Exones
/
Corea
/
Trastornos del Conocimiento
/
Emparejamiento Base
/
Neuroacantocitosis
/
Corea (Geográfico)
/
Enfermedades Musculares
Límite:
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2017
Tipo del documento:
Artículo
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