The First Genetically Confirmed McLeod Syndrome in Korea
Journal of the Korean Neurological Association
; : 85-88, 2017.
Article
em Ko
| WPRIM
| ID: wpr-47049
Biblioteca responsável:
WPRO
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).
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Base de dados:
WPRIM
Assunto principal:
Abetalipoproteinemia
/
Transtornos Psicóticos
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Convulsões
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Éxons
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Coreia
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Transtornos Cognitivos
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Pareamento de Bases
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Neuroacantocitose
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Coreia (Geográfico)
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Doenças Musculares
Limite:
Humans
/
Male
País como assunto:
Asia
Idioma:
Ko
Ano de publicação:
2017
Tipo de documento:
Article