The First Genetically Confirmed McLeod Syndrome in Korea
Journal of the Korean Neurological Association
;
: 85-88, 2017.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Abetalipoproteinemia
/
Transtornos Psicóticos
/
Convulsões
/
Éxons
/
Coreia
/
Transtornos Cognitivos
/
Pareamento de Bases
/
Neuroacantocitose
/
Coreia (Geográfico)
/
Doenças Musculares
Limite:
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2017
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS