Congenital Myotonic Dystrophy Diagnosed in an Adolescent Period
Journal of the Korean Neurological Association
;
: 383-386, 2008.
Article
in Korean
| WPRIM
| ID: wpr-23327
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Protein Kinases
/
Chromosomes, Human, Pair 19
/
Fetus
/
Mothers
/
Myotonic Dystrophy
Type of study:
Diagnostic study
Limits:
Adolescent
/
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2008
Type:
Article
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