Central Core Disease: A Case Report
Korean Journal of Pathology
;
: 68-71, 2004.
Artigo
em Inglês
| WPRIM
| ID: wpr-118535
ABSTRACT
Central core disease is a rare autosomal dominantly inherited non-progressive congenital myopathy, which is pathologically characterized by the formation of a "core". We report a 28-year-old female with non-progressive muscle weakness, who had a hypotonic posture at birth. The developmental milestones were delayed with her first walking at 18 months of age. She could not run or walk a long distance and weight-bearing tasks were almost impossible. None of her family members showed motor symptoms. An investigation of the electromyography and nerve conduction velocity showed non-specific results. A gastrocnemius muscle biopsy revealed central cores in approximately 70% of myofibers with a type 1 myofiber predominance and deranged sarcolemmal structures. To the best of our knowledge, this is the fifth report of central core disease in the Korean literature.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Postura
/
Biópsia
/
Caminhada
/
Suporte de Carga
/
Músculo Esquelético
/
Debilidade Muscular
/
Miopatia da Parte Central
/
Parto
/
Eletromiografia
/
Doenças Musculares
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Korean Journal of Pathology
Ano de publicação:
2004
Tipo de documento:
Artigo
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