Congenital myopathies: a clinicopathological study of 25 cases.
Indian J Pathol Microbiol
;
2008 Oct-Dec; 51(4): 474-80
Artigo
em Inglês
| IMSEAR
| ID: sea-74198
ABSTRACT
OBJECTIVE:
Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. MATERIALS ANDMETHODS:
The clinical data of patients who were diagnosed with congenital myopathy between 2001 and 2006 was retrieved. Muscle biopsies were processed for H&E staining, enzyme histochemistry, and immunohistochemistry. Biopsies were also processed for ultrastructural analysis.RESULTS:
During a period of 6 years, 1.12% of the muscle biopsies were diagnosed as congenital myopathies. The most common congenital myopathy was central core disease followed by nemaline rod myopathy and multi-mini core disease. Clinically, they have variable features. The final diagnosis was made with the help of enzyme histochemistry and ultrastructural features.CONCLUSION:
This study emphasizes the importance of enzyme histochemistry and electron microscopic examination in the diagnosis of congenital myopathies especially in the absence of genetic studies.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Biópsia
/
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
/
Imuno-Histoquímica
/
Microscopia Eletrônica
/
Criança
/
Pré-Escolar
/
Adolescente
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Pathol Microbiol
Ano de publicação:
2008
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS