Congenital Myotonic Dystrophy Diagnosed in an Adolescent Period
Journal of the Korean Neurological Association
; : 383-386, 2008.
Article
em Ko
| WPRIM
| ID: wpr-23327
Biblioteca responsável:
WPRO
ABSTRACT
Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with multisystem involvement, caused by an abnormal expansion of CTG sequence of the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19. Congenital myotonic dystrophy (CDM) is the most severe phenotypic form of DM1. CMD tends to be observed in congenitally affected fetus or neonates born to affected mothers. We report a patient confirmed as CDM during the adolescent period.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Proteínas Quinases
/
Cromossomos Humanos Par 19
/
Feto
/
Mães
/
Distrofia Miotônica
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Humans
/
Newborn
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2008
Tipo de documento:
Article