Your browser doesn't support javascript.
loading
Central core disease
Journal of Korean Medical Science ; : 235-240, 1993.
Artigo em Inglês | WPRIM | ID: wpr-163284
ABSTRACT
Central core disease is a rare congenital myopathy characterized by the formation of cores that consist of abnormal arrangement of myofibrils inside the myofibers. We report a 5-year-old Korean girl who showed a fairly typical clinical course of non-progressive muscle weakness. Electrodiagnostic studies showed low-amplitude polyphasic electromyograph and normal nerve conduction velocity. Gastrocnemius muscle biopsy showed central cores in over 80% of the fibers on H&E section. Histochemistry revealed deficient or absent mitochondrial enzyme in the cores and type I predominance. Ultrastructurally both structured and non-structured cores were found separately or simultaneously in one fiber. This case is the first report in the Korean literature.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Microscopia Eletrônica / Músculos / Doenças Musculares Limite: Criança, pré-escolar / Feminino / Humanos Idioma: Inglês Revista: Journal of Korean Medical Science Ano de publicação: 1993 Tipo de documento: Artigo

Similares

MEDLINE

...
LILACS

LIS

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Microscopia Eletrônica / Músculos / Doenças Musculares Limite: Criança, pré-escolar / Feminino / Humanos Idioma: Inglês Revista: Journal of Korean Medical Science Ano de publicação: 1993 Tipo de documento: Artigo