A Case of Centronuclear Myopathy
Journal of the Korean Neurological Association
;
: 491-494, 2006.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Debilidad Muscular
/
Miopatías Estructurales Congénitas
/
Patrón de Herencia
/
Enfermedades Musculares
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2006
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS