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A Case of Nemaline Myopathy
Journal of the Korean Pediatric Society ; : 1182-1186, 2001.
Artigo em Coreano | WPRIM | ID: wpr-105003
ABSTRACT
Childhood onset nemaline myopathy, first described in 1963 by Shy, et al and Conen, et al, is rare congenital myopathy, characterized by nonprogressive or slowly progressive muscle weakness associated with rod-like structures in muscle fibers, often with dysmorphic features. This myopathy was confirmed by muscle biopsy. The light microscopic features noted generally small round fibers that showed variation in size and occasional internal nuclei and characteristic rod bodies that could be demonstrated in the longitudinal sections stained with modified Gomori trichrome stain. Electromicroscopically there were accumulations of numerous irregular electron dense materials scattered between the myofibrils, particularly under the sarcolemma and enlargement and streamimg of the Z disk. We report a case of childhood onset nemaline myopathy in Korea in a 7 year- old boy who had nonprogressive muscle weakness of the limbs with a waddling gait.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Sarcolema / Biópsia / Miopatias da Nemalina / Debilidade Muscular / Extremidades / Marcha / Coreia (Geográfico) / Doenças Musculares / Miofibrilas Limite: Humanos / Masculino País/Região como assunto: Ásia Idioma: Coreano Revista: Journal of the Korean Pediatric Society Ano de publicação: 2001 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Sarcolema / Biópsia / Miopatias da Nemalina / Debilidade Muscular / Extremidades / Marcha / Coreia (Geográfico) / Doenças Musculares / Miofibrilas Limite: Humanos / Masculino País/Região como assunto: Ásia Idioma: Coreano Revista: Journal of the Korean Pediatric Society Ano de publicação: 2001 Tipo de documento: Artigo