Congenital myopathies: a clinicopathological study of 25 cases.
Indian J Pathol Microbiol
;
2008 Oct-Dec; 51(4): 474-80
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Biopsy
/
Female
/
Humans
/
Male
/
Infant, Newborn
/
Immunohistochemistry
/
Microscopy, Electron
/
Child
/
Child, Preschool
/
Adolescent
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Pathol Microbiol
Year:
2008
Type:
Article
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