A Case of Centronuclear Myopathy
Journal of the Korean Neurological Association
;
: 491-494, 2006.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Debilidade Muscular
/
Miopatias Congênitas Estruturais
/
Padrões de Herança
/
Doenças Musculares
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2006
Tipo de documento:
Artigo
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