A Case of Centronuclear Myopathy
Journal of the Korean Neurological Association
;
: 491-494, 2006.
Article
Dans Coréen
| WPRIM
| ID: wpr-152872
ABSTRACT
Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three forms according to the clinical features and inheritance pattern the X-linked recessive, the autosomal recessive, and the autosomal dominant forms. We report a case of a patient with generalized muscle weakness, poor muscle bulk, and dysmorphic features who was diagnosed as centronuclear myopathy.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Anatomopathologie
/
Faiblesse musculaire
/
Myopathies congénitales structurales
/
Modes de transmission héréditaire
/
Maladies musculaires
Limites du sujet:
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
2006
Type:
Article
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